Canonical Allele Identifier: CA2036910124

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308791_53308809delinsTGCCATCTGGGCTCCAGCA , CM000674.2:g.53308791_53308809delinsTGCCATCTGGGCTCCAGCA	GRCh38
NC_000012.11:g.53702575_53702593delinsTGCCATCTGGGCTCCAGCA , CM000674.1:g.53702575_53702593delinsTGCCATCTGGGCTCCAGCA	GRCh37
NC_000012.10:g.51988842_51988860delinsTGCCATCTGGGCTCCAGCA	NCBI36
NG_016775.1:g.17820_17838delinsTGCTGGAGCCCAGATGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1003_1021delinsTGCTGGAGCCCAGATGGCA MANE Select	ENSP00000209873.4:p.Cys335=
ENST00000546393.7:n.1848_1866delinsTGCTGGAGCCCAGATGGCA
ENST00000546562.6:n.2067_2085delinsTGCTGGAGCCCAGATGGCA
ENST00000547238.6:n.1639_1657delinsTGCTGGAGCCCAGATGGCA
ENST00000547520.6:n.997_1015delinsTGCTGGAGCCCAGATGGCA
ENST00000547757.2:c.52_70delinsTGCTGGAGCCCAGATGGCA	ENSP00000448020.2:p.Cys18=
ENST00000548880.2:n.1453_1471delinsTGCTGGAGCCCAGATGGCA
ENST00000548931.6:c.523_541delinsTGCTGGAGCCCAGATGGCA	ENSP00000457518.1:p.Cys175=
ENST00000549450.6:n.937_955delinsTGCTGGAGCCCAGATGGCA
ENST00000552161.6:n.1959_1977delinsTGCTGGAGCCCAGATGGCA
ENST00000672797.1:n.1492_1510delinsTGCTGGAGCCCAGATGGCA
ENST00000672900.1:n.1945_1963delinsTGCTGGAGCCCAGATGGCA
ENST00000209873.8:c.1003_1021delinsTGCTGGAGCCCAGATGGCA	ENSP00000209873.4:p.Cys335=
ENST00000394384.7:c.904_922delinsTGCTGGAGCCCAGATGGCA	ENSP00000377908.3:p.Cys302=
ENST00000547520.5:n.707_725delinsTGCTGGAGCCCAGATGGCA
ENST00000548931.5:c.523_541delinsTGCTGGAGCCCAGATGGCA	ENSP00000457518.1:p.Cys175=
ENST00000550033.5:n.258_276delinsTGCTGGAGCCCAGATGGCA
ENST00000550286.5:c.631_649delinsTGCTGGAGCCCAGATGGCA	ENSP00000446885.1:p.Cys211=
ENST00000552876.5:n.1346_1364delinsTGCTGGAGCCCAGATGGCA
NM_001173466.1:c.904_922delinsTGCTGGAGCCCAGATGGCA	NP_001166937.1:p.Cys302=
NM_015665.5:c.1003_1021delinsTGCTGGAGCCCAGATGGCA	NP_056480.1:p.Cys335=
XM_006719617.2:c.1018_1036delinsTGCTGGAGCCCAGATGGCA	XP_006719680.1:p.Cys340=
XM_006719619.2:c.*13_*31delinsTGCTGGAGCCCAGATGGCA	XP_006719682.1:n.*13_*31delinsTGCTGGAGCCCAGATGGCA
XM_011538777.1:c.1018_1036delinsTGCTGGAGCCCAGATGGCA	XP_011537079.1:p.Cys340=
XM_011538778.1:c.1003_1021delinsTGCTGGAGCCCAGATGGCA	XP_011537080.1:p.Cys335=
XM_011538779.1:c.919_937delinsTGCTGGAGCCCAGATGGCA	XP_011537081.1:p.Cys307=
XM_011538780.1:c.904_922delinsTGCTGGAGCCCAGATGGCA	XP_011537082.1:p.Cys302=
XM_011538781.1:c.352_370delinsTGCTGGAGCCCAGATGGCA	XP_011537083.1:p.Cys118=
XM_011538778.2:c.1003_1021delinsTGCTGGAGCCCAGATGGCA	XP_011537080.1:p.Cys335=
XM_011538780.2:c.904_922delinsTGCTGGAGCCCAGATGGCA	XP_011537082.1:p.Cys302=
XR_001748875.2:n.1060_1078delinsTGCTGGAGCCCAGATGGCA
NM_015665.6:c.1003_1021delinsTGCTGGAGCCCAGATGGCA MANE Select	NP_056480.1:p.Cys335=
NM_001173466.2:c.904_922delinsTGCTGGAGCCCAGATGGCA	NP_001166937.1:p.Cys302=