Canonical Allele Identifier: CA605243799

Gene: AAAS

Linked Data

• dbSNP Id: rs1268595876
• gnomAD v2: 12-53701877-AAGG-A
• gnomAD v4: 12-53308093-AAGG-A
• MyVariant Identifiers: chr12:g.53701878_53701880del (hg19) ; chr12:g.53308094_53308096del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308098_53308100del , CM000674.2:g.53308098_53308100del	GRCh38
NC_000012.11:g.53701882_53701884del , CM000674.1:g.53701882_53701884del	GRCh37
NC_000012.10:g.51988149_51988151del	NCBI36
NG_016775.1:g.18533_18535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1287_1289del MANE Select	ENSP00000209873.4:p.Leu430del
ENST00000546562.6:n.2351_2353del
ENST00000547238.6:n.1923_1925del
ENST00000547520.6:n.1281_1283del
ENST00000547757.2:c.336_338del	ENSP00000448020.2:p.Leu113del
ENST00000548880.2:n.1737_1739del
ENST00000548931.6:c.807_809del	ENSP00000457518.1:p.Leu270del
ENST00000549450.6:n.1221_1223del
ENST00000552161.6:n.2243_2245del
ENST00000672797.1:n.1776_1778del
ENST00000672900.1:n.2377_2379del
ENST00000209873.8:c.1287_1289del	ENSP00000209873.4:p.Leu430del
ENST00000394384.7:c.1188_1190del	ENSP00000377908.3:p.Leu397del
ENST00000548931.5:c.807_809del	ENSP00000457518.1:p.Leu270del
ENST00000550033.5:n.542_544del
ENST00000550286.5:c.915_917del	ENSP00000446885.1:p.Leu306del
ENST00000552876.5:n.1630_1632del
NM_001173466.1:c.1188_1190del	NP_001166937.1:p.Leu397del
NM_015665.5:c.1287_1289del	NP_056480.1:p.Leu430del
XM_006719617.2:c.1302_1304del	XP_006719680.1:p.Leu435del
XM_011538777.1:c.1302_1304del	XP_011537079.1:p.Leu435del
XM_011538778.1:c.1287_1289del	XP_011537080.1:p.Leu430del
XM_011538779.1:c.1203_1205del	XP_011537081.1:p.Leu402del
XM_011538780.1:c.1188_1190del	XP_011537082.1:p.Leu397del
XM_011538781.1:c.636_638del	XP_011537083.1:p.Leu213del
XM_011538778.2:c.1287_1289del	XP_011537080.1:p.Leu430del
XM_011538780.2:c.1188_1190del	XP_011537082.1:p.Leu397del
XR_001748875.2:n.1344_1346del
NM_015665.6:c.1287_1289del MANE Select	NP_056480.1:p.Leu430del
NM_001173466.2:c.1188_1190del	NP_001166937.1:p.Leu397del