Canonical Allele Identifier: CA605243943

Gene: AAAS

Linked Data

• dbSNP Id: rs1428677210
• gnomAD v2: 12-53702621-CAGG-C
• gnomAD v4: 12-53308837-CAGG-C
• MyVariant Identifiers: chr12:g.53702622_53702624del (hg19) ; chr12:g.53308838_53308840del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308840_53308842del , CM000674.2:g.53308840_53308842del	GRCh38
NC_000012.11:g.53702624_53702626del , CM000674.1:g.53702624_53702626del	GRCh37
NC_000012.10:g.51988891_51988893del	NCBI36
NG_016775.1:g.17789_17791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.997-25_997-23del MANE Select	ENSP00000209873.4:n.997-25_997-23del
ENST00000546393.7:n.1842-25_1842-23del
ENST00000546562.6:n.2061-25_2061-23del
ENST00000547238.6:n.1633-25_1633-23del
ENST00000547520.6:n.991-25_991-23del
ENST00000547757.2:c.46-25_46-23del	ENSP00000448020.2:n.46-25_46-23del
ENST00000548880.2:n.1447-25_1447-23del
ENST00000548931.6:c.517-25_517-23del	ENSP00000457518.1:n.517-25_517-23del
ENST00000549450.6:n.931-25_931-23del
ENST00000552161.6:n.1953-25_1953-23del
ENST00000672797.1:n.1461_1463del
ENST00000672900.1:n.1914_1916del
ENST00000209873.8:c.997-25_997-23del	ENSP00000209873.4:n.997-25_997-23del
ENST00000394384.7:c.898-25_898-23del	ENSP00000377908.3:n.898-25_898-23del
ENST00000547520.5:n.701-25_701-23del
ENST00000548931.5:c.517-25_517-23del	ENSP00000457518.1:n.517-25_517-23del
ENST00000550033.5:n.252-25_252-23del
ENST00000550286.5:c.625-25_625-23del	ENSP00000446885.1:n.625-25_625-23del
ENST00000552876.5:n.1340-25_1340-23del
NM_001173466.1:c.898-25_898-23del	NP_001166937.1:n.898-25_898-23del
NM_015665.5:c.997-25_997-23del	NP_056480.1:n.997-25_997-23del
XM_006719617.2:c.1012-25_1012-23del	XP_006719680.1:n.1012-25_1012-23del
XM_006719619.2:c.1023_1025del	XP_006719682.1:p.Leu342del
XM_011538777.1:c.1012-25_1012-23del	XP_011537079.1:n.1012-25_1012-23del
XM_011538778.1:c.997-25_997-23del	XP_011537080.1:n.997-25_997-23del
XM_011538779.1:c.913-25_913-23del	XP_011537081.1:n.913-25_913-23del
XM_011538780.1:c.898-25_898-23del	XP_011537082.1:n.898-25_898-23del
XM_011538781.1:c.346-25_346-23del	XP_011537083.1:n.346-25_346-23del
XM_011538778.2:c.997-25_997-23del	XP_011537080.1:n.997-25_997-23del
XM_011538780.2:c.898-25_898-23del	XP_011537082.1:n.898-25_898-23del
XR_001748875.2:n.1029_1031del
NM_015665.6:c.997-25_997-23del MANE Select	NP_056480.1:n.997-25_997-23del
NM_001173466.2:c.898-25_898-23del	NP_001166937.1:n.898-25_898-23del