Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
CTT/-
Location

Chromosome 3:197951229-197951231 (forward strand) | View in location tab

Most severe consequence
 
Inframe deletion
Evidence status

Clinical significance

Synonyms

LSDB NM_000996.2:c.82_84delCTT

This variant has 17 HGVS names - click the plus to show

3:g.197951229_197951231delCTT
ENST00000439255.1:c.82_84delCTT
ENSP00000410683.1:p.Leu28del
ENST00000265239.10:c.-59-5541_-59-5539delAGA
ENST00000480302.5:n.313-5541_313-5539delAGA
ENST00000464167.5:c.82_84delCTT
ENSP00000419117.1:p.Leu28del
ENST00000496582.5:n.143_145delCTT
ENST00000448864.5:c.82_84delCTT
ENSP00000393393.1:p.Leu28del
ENST00000485439.5:n.146_148delCTT
ENST00000442341.5:c.82_84delCTT
ENSP00000387688.1:p.Leu28del
ENST00000329092.12:n.143_145delCTT
ENST00000429437.5:c.82_84delCTT
ENSP00000398058.1:p.Leu28del
ENST00000416896.1:c.-49-7176_-49-7174delAGA

About this variant

This variant overlaps 16 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays