Canonical Allele Identifier: CA2573053722

Gene: AAAS

Linked Data

• dbSNP Id: rs2121087847

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309163_53309166del , CM000674.2:g.53309163_53309166del	GRCh38
NC_000012.11:g.53702947_53702950del , CM000674.1:g.53702947_53702950del	GRCh37
NC_000012.10:g.51989214_51989217del	NCBI36
NG_016775.1:g.17465_17468del

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.928_931del MANE Select	ENSP00000209873.4:p.Val310PhefsTer?
ENST00000546393.7:n.1773_1776del
ENST00000546562.6:n.1992_1995del
ENST00000547238.6:n.1564_1567del
ENST00000547520.6:n.922_925del
ENST00000547757.2:c.-24_-21del	ENSP00000448020.2:n.-24_-21del
ENST00000548880.2:n.1378_1381del
ENST00000548931.6:c.448_451del	ENSP00000457518.1:p.Val150PhefsTer?
ENST00000549450.6:n.862_865del
ENST00000552161.6:n.1884_1887del
ENST00000672797.1:n.1381_1384del
ENST00000672900.1:n.1726_1729del
ENST00000209873.8:c.928_931del	ENSP00000209873.4:p.Val310PhefsTer?
ENST00000394384.7:c.829_832del	ENSP00000377908.3:p.Val277PhefsTer?
ENST00000546393.6:n.825_828del
ENST00000546572.1:n.380_383del
ENST00000547520.5:n.632_635del
ENST00000547757.1:c.829_832del	ENSP00000448020.1:p.Val277=
ENST00000547761.6:n.820_823del
ENST00000548931.5:c.448_451del	ENSP00000457518.1:p.Val150PhefsTer?
ENST00000550033.5:n.183_186del
ENST00000550286.5:c.556_559del	ENSP00000446885.1:p.Val186PhefsTer?
ENST00000552876.5:n.1271_1274del
NM_001173466.1:c.829_832del	NP_001166937.1:p.Val277PhefsTer?
NM_015665.5:c.928_931del	NP_056480.1:p.Val310PhefsTer?
XM_006719617.2:c.943_946del	XP_006719680.1:p.Val315PhefsTer?
XM_006719619.2:c.943_946del	XP_006719682.1:p.Val315PhefsTer?
XM_011538777.1:c.943_946del	XP_011537079.1:p.Val315PhefsTer?
XM_011538778.1:c.928_931del	XP_011537080.1:p.Val310PhefsTer?
XM_011538779.1:c.844_847del	XP_011537081.1:p.Val282PhefsTer?
XM_011538780.1:c.829_832del	XP_011537082.1:p.Val277PhefsTer?
XM_011538781.1:c.277_280del	XP_011537083.1:p.Val93PhefsTer?
XM_011538778.2:c.928_931del	XP_011537080.1:p.Val310PhefsTer?
XM_011538780.2:c.829_832del	XP_011537082.1:p.Val277PhefsTer?
XR_001748875.2:n.949_952del
NM_015665.6:c.928_931del MANE Select	NP_056480.1:p.Val310PhefsTer?
NM_001173466.2:c.829_832del	NP_001166937.1:p.Val277PhefsTer?