Canonical Allele Identifier: CA2619037947

Gene: AAAS

Linked Data

• gnomAD v4: 12-53309168-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309170_53309172del , CM000674.2:g.53309170_53309172del	GRCh38
NC_000012.11:g.53702954_53702956del , CM000674.1:g.53702954_53702956del	GRCh37
NC_000012.10:g.51989221_51989223del	NCBI36
NG_016775.1:g.17458_17460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.921_923del MANE Select	ENSP00000209873.4:p.Ser308del
ENST00000546393.7:n.1766_1768del
ENST00000546562.6:n.1985_1987del
ENST00000547238.6:n.1557_1559del
ENST00000547520.6:n.915_917del
ENST00000547757.2:c.-31_-29del	ENSP00000448020.2:n.-31_-29del
ENST00000548880.2:n.1371_1373del
ENST00000548931.6:c.441_443del	ENSP00000457518.1:p.Ser148del
ENST00000549450.6:n.855_857del
ENST00000552161.6:n.1877_1879del
ENST00000672797.1:n.1374_1376del
ENST00000672900.1:n.1719_1721del
ENST00000209873.8:c.921_923del	ENSP00000209873.4:p.Ser308del
ENST00000394384.7:c.822_824del	ENSP00000377908.3:p.Ser275del
ENST00000546393.6:n.818_820del
ENST00000546572.1:n.373_375del
ENST00000547520.5:n.625_627del
ENST00000547757.1:c.822_824del	ENSP00000448020.1:p.Ser275del
ENST00000547761.6:n.813_815del
ENST00000548931.5:c.441_443del	ENSP00000457518.1:p.Ser148del
ENST00000550033.5:n.176_178del
ENST00000550286.5:c.549_551del	ENSP00000446885.1:p.Ser184del
ENST00000552876.5:n.1264_1266del
NM_001173466.1:c.822_824del	NP_001166937.1:p.Ser275del
NM_015665.5:c.921_923del	NP_056480.1:p.Ser308del
XM_006719617.2:c.936_938del	XP_006719680.1:p.Ser313del
XM_006719619.2:c.936_938del	XP_006719682.1:p.Ser313del
XM_011538777.1:c.936_938del	XP_011537079.1:p.Ser313del
XM_011538778.1:c.921_923del	XP_011537080.1:p.Ser308del
XM_011538779.1:c.837_839del	XP_011537081.1:p.Ser280del
XM_011538780.1:c.822_824del	XP_011537082.1:p.Ser275del
XM_011538781.1:c.270_272del	XP_011537083.1:p.Ser91del
XM_011538778.2:c.921_923del	XP_011537080.1:p.Ser308del
XM_011538780.2:c.822_824del	XP_011537082.1:p.Ser275del
XR_001748875.2:n.942_944del
NM_015665.6:c.921_923del MANE Select	NP_056480.1:p.Ser308del
NM_001173466.2:c.822_824del	NP_001166937.1:p.Ser275del