Original source

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

Alleles
TAT/-
Location

Chromosome 11:112088974-112088976 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11381

This variation has 23 HGVS names - click the plus to show

11:g.112088974_112088976delTAT
ENST00000528182.4:c.278_280delATT
ENSP00000435475.1:p.Tyr93del
ENST00000525987.4:n.283_285delATT
ENST00000534010.1:c.109_111delATT
ENSP00000433202.1:p.Tyr37del
ENST00000526592.4:c.278_280delATT
ENSP00000432005.1:p.Tyr93del
ENST00000532699.1:c.278_280delATT
ENSP00000456434.1:p.Tyr93del
ENST00000614349.3:c.278_280delATT
ENSP00000480666.1:p.Tyr93del
ENST00000375549.6:c.278_280delATT
ENSP00000364699.3:p.Tyr93del
ENST00000528021.4:c.278_280delATT
ENSP00000432465.1:p.Tyr93del
ENST00000525291.4:c.161_163delATT
ENSP00000436669.1:p.Tyr54del
ENST00000530923.4:c.268_270delATT
ENSP00000432946.1:p.Tyr90del
ENST00000531744.4:c.278_280delATT
ENSP00000456957.1:p.Tyr93del
ENST00000528048.4:c.169+1002_169+1004delATT

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variation displays