Canonical Allele Identifier: CA689917701

Gene: AAAS

Linked Data

• dbSNP Id: rs1179559204
• gnomAD v3: 12-53308740-AAGAC-A
• gnomAD v4: 12-53308740-AAGAC-A
• MyVariant Identifiers: chr12:g.53702525_53702528del (hg19) ; chr12:g.53308741_53308744del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308743_53308746del , CM000674.2:g.53308743_53308746del	GRCh38
NC_000012.11:g.53702527_53702530del , CM000674.1:g.53702527_53702530del	GRCh37
NC_000012.10:g.51988794_51988797del	NCBI36
NG_016775.1:g.17885_17888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1068_1071del MANE Select	ENSP00000209873.4:p.Ser357PhefsTer?
ENST00000546562.6:n.2132_2135del
ENST00000547238.6:n.1704_1707del
ENST00000547520.6:n.1062_1065del
ENST00000547757.2:c.117_120del	ENSP00000448020.2:p.Ser40PhefsTer?
ENST00000548880.2:n.1518_1521del
ENST00000548931.6:c.588_591del	ENSP00000457518.1:p.Ser197PhefsTer?
ENST00000549450.6:n.1002_1005del
ENST00000552161.6:n.2024_2027del
ENST00000672797.1:n.1557_1560del
ENST00000672900.1:n.2010_2013del
ENST00000209873.8:c.1068_1071del	ENSP00000209873.4:p.Ser357PhefsTer?
ENST00000394384.7:c.969_972del	ENSP00000377908.3:p.Ser324PhefsTer?
ENST00000548931.5:c.588_591del	ENSP00000457518.1:p.Ser197PhefsTer?
ENST00000550033.5:n.323_326del
ENST00000550286.5:c.696_699del	ENSP00000446885.1:p.Ser233PhefsTer?
ENST00000552876.5:n.1411_1414del
NM_001173466.1:c.969_972del	NP_001166937.1:p.Ser324PhefsTer?
NM_015665.5:c.1068_1071del	NP_056480.1:p.Ser357PhefsTer?
XM_006719617.2:c.1083_1086del	XP_006719680.1:p.Ser362PhefsTer?
XM_011538777.1:c.1083_1086del	XP_011537079.1:p.Ser362PhefsTer?
XM_011538778.1:c.1068_1071del	XP_011537080.1:p.Ser357PhefsTer?
XM_011538779.1:c.984_987del	XP_011537081.1:p.Ser329PhefsTer?
XM_011538780.1:c.969_972del	XP_011537082.1:p.Ser324PhefsTer?
XM_011538781.1:c.417_420del	XP_011537083.1:p.Ser140PhefsTer?
XM_011538778.2:c.1068_1071del	XP_011537080.1:p.Ser357PhefsTer?
XM_011538780.2:c.969_972del	XP_011537082.1:p.Ser324PhefsTer?
XR_001748875.2:n.1125_1128del
NM_015665.6:c.1068_1071del MANE Select	NP_056480.1:p.Ser357PhefsTer?
NM_001173466.2:c.969_972del	NP_001166937.1:p.Ser324PhefsTer?