Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
TT/CC/GTT/GCC
Location

Chromosome 17:39723966-39723967 (forward strand) | View in location tab

Co-located

with COSMIC COSM683 (TT/CC)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB Cosmic:683, 4437

This variation has 54 HGVS names - click the plus to show

Variant allele CC
17:g.39723966_39723967delTTinsCC
ENST00000578630.1:n.872_873delTTinsCC
ENST00000583038.3:n.3397_3398delTTinsCC
ENST00000541774.3:c.2218_2219delTTinsCC
ENSP00000446466.1:p.Leu740Pro
ENST00000580074.1:c.369_370delTTinsCC
ENSP00000463002.1:p.Leu124Pro
ENST00000445658.4:c.1435_1436delTTinsCC
ENSP00000404047.2:p.Leu479Pro
ENST00000269571.7:c.2263_2264delTTinsCC
ENSP00000269571.4:p.Leu755Pro
ENST00000406381.4:c.2173_2174delTTinsCC
ENSP00000385185.2:p.Leu725Pro
ENST00000584450.3:c.2263_2264delTTinsCC
ENSP00000463714.1:p.Leu755Pro
ENST00000578373.3:c.*2053_*2054delTTinsCC
ENST00000584601.3:c.2173_2174delTTinsCC
ENSP00000462438.1:p.Leu725Pro

Variant allele GCC
17:g.39723966_39723967delTTinsGCC
ENST00000578630.1:n.872_873delTTinsGCC
ENST00000583038.3:n.3397_3398delTTinsGCC
ENST00000541774.3:c.2218_2219delTTinsGCC
ENSP00000446466.1:p.Leu740AlafsTer119
ENST00000580074.1:c.369_370delTTinsGCC
ENSP00000463002.1:p.Leu124AlafsTer119
ENST00000445658.4:c.1435_1436delTTinsGCC
ENSP00000404047.2:p.Leu479AlafsTer119
ENST00000269571.7:c.2263_2264delTTinsGCC
ENSP00000269571.4:p.Leu755AlafsTer119
ENST00000406381.4:c.2173_2174delTTinsGCC
ENSP00000385185.2:p.Leu725AlafsTer119
ENST00000584450.3:c.2263_2264delTTinsGCC
ENSP00000463714.1:p.Leu755AlafsTer119
ENST00000578373.3:c.*2053_*2054delTTinsGCC
ENST00000584601.3:c.2173_2174delTTinsGCC
ENSP00000462438.1:p.Leu725AlafsTer119

Variant allele GTT
17:g.39723966_39723967delTTinsGTT
ENST00000578630.1:n.872_873delTTinsGTT
ENST00000583038.3:n.3397_3398delTTinsGTT
ENST00000541774.3:c.2218_2219delTTinsGTT
ENSP00000446466.1:p.Leu740ValfsTer119
ENST00000580074.1:c.369_370delTTinsGTT
ENSP00000463002.1:p.Leu124ValfsTer119
ENST00000445658.4:c.1435_1436delTTinsGTT
ENSP00000404047.2:p.Leu479ValfsTer119
ENST00000269571.7:c.2263_2264delTTinsGTT
ENSP00000269571.4:p.Leu755ValfsTer119
ENST00000406381.4:c.2173_2174delTTinsGTT
ENSP00000385185.2:p.Leu725ValfsTer119
ENST00000584450.3:c.2263_2264delTTinsGTT
ENSP00000463714.1:p.Leu755ValfsTer119
ENST00000578373.3:c.*2053_*2054delTTinsGTT
ENST00000584601.3:c.2173_2174delTTinsGTT
ENSP00000462438.1:p.Leu725ValfsTer119

Variation displays