Canonical Allele Identifier: CA6599003

Gene: AAAS

Linked Data

• ClinVar Variation Id: 264992
• ClinVar RCV Id: RCV000255286
• dbSNP Id: rs763216820
• ExAC: 12:53702528 CAG / C
• gnomAD v2: 12-53702528-CAG-C
• gnomAD v3: 12-53308744-CAG-C
• gnomAD v4: 12-53308744-CAG-C
• MyVariant Identifiers: chr12:g.53702529_53702530del (hg19) ; chr12:g.53308745_53308746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308745_53308746del , CM000674.2:g.53308745_53308746del	GRCh38
NC_000012.11:g.53702529_53702530del , CM000674.1:g.53702529_53702530del	GRCh37
NC_000012.10:g.51988796_51988797del	NCBI36
NG_016775.1:g.17883_17884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1066_1067del MANE Select	ENSP00000209873.4:p.Leu356ValfsTer8
ENST00000546562.6:n.2130_2131del
ENST00000547238.6:n.1702_1703del
ENST00000547520.6:n.1060_1061del
ENST00000547757.2:c.115_116del	ENSP00000448020.2:p.Leu39ValfsTer8
ENST00000548880.2:n.1516_1517del
ENST00000548931.6:c.586_587del	ENSP00000457518.1:p.Leu196ValfsTer8
ENST00000549450.6:n.1000_1001del
ENST00000552161.6:n.2022_2023del
ENST00000672797.1:n.1555_1556del
ENST00000672900.1:n.2008_2009del
ENST00000209873.8:c.1066_1067del	ENSP00000209873.4:p.Leu356ValfsTer8
ENST00000394384.7:c.967_968del	ENSP00000377908.3:p.Leu323ValfsTer8
ENST00000548931.5:c.586_587del	ENSP00000457518.1:p.Leu196ValfsTer8
ENST00000550033.5:n.321_322del
ENST00000550286.5:c.694_695del	ENSP00000446885.1:p.Leu232ValfsTer8
ENST00000552876.5:n.1409_1410del
NM_001173466.1:c.967_968del	NP_001166937.1:p.Leu323ValfsTer8
NM_015665.5:c.1066_1067del	NP_056480.1:p.Leu356ValfsTer8
XM_006719617.2:c.1081_1082del	XP_006719680.1:p.Leu361ValfsTer8
XM_011538777.1:c.1081_1082del	XP_011537079.1:p.Leu361ValfsTer8
XM_011538778.1:c.1066_1067del	XP_011537080.1:p.Leu356ValfsTer8
XM_011538779.1:c.982_983del	XP_011537081.1:p.Leu328ValfsTer8
XM_011538780.1:c.967_968del	XP_011537082.1:p.Leu323ValfsTer8
XM_011538781.1:c.415_416del	XP_011537083.1:p.Leu139ValfsTer8
XM_011538778.2:c.1066_1067del	XP_011537080.1:p.Leu356ValfsTer8
XM_011538780.2:c.967_968del	XP_011537082.1:p.Leu323ValfsTer8
XR_001748875.2:n.1123_1124del
NM_015665.6:c.1066_1067del MANE Select	NP_056480.1:p.Leu356ValfsTer8
NM_001173466.2:c.967_968del	NP_001166937.1:p.Leu323ValfsTer8