Canonical Allele Identifier: CA6598993

Gene: AAAS

Linked Data

• dbSNP Id: rs780646323
• ExAC: 12:53702509 CACA / C
• gnomAD v4: 12-53308725-CACA-C
• MyVariant Identifiers: chr12:g.53702510_53702512del (hg19) ; chr12:g.53308726_53308728del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308728_53308730del , CM000674.2:g.53308728_53308730del	GRCh38
NC_000012.11:g.53702512_53702514del , CM000674.1:g.53702512_53702514del	GRCh37
NC_000012.10:g.51988779_51988781del	NCBI36
NG_016775.1:g.17901_17903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1084_1086del MANE Select	ENSP00000209873.4:p.Cys362del
ENST00000546562.6:n.2148_2150del
ENST00000547238.6:n.1720_1722del
ENST00000547520.6:n.1078_1080del
ENST00000547757.2:c.133_135del	ENSP00000448020.2:p.Cys45del
ENST00000548880.2:n.1534_1536del
ENST00000548931.6:c.604_606del	ENSP00000457518.1:p.Cys202del
ENST00000549450.6:n.1018_1020del
ENST00000552161.6:n.2040_2042del
ENST00000672797.1:n.1573_1575del
ENST00000672900.1:n.2026_2028del
ENST00000209873.8:c.1084_1086del	ENSP00000209873.4:p.Cys362del
ENST00000394384.7:c.985_987del	ENSP00000377908.3:p.Cys329del
ENST00000548931.5:c.604_606del	ENSP00000457518.1:p.Cys202del
ENST00000550033.5:n.339_341del
ENST00000550286.5:c.712_714del	ENSP00000446885.1:p.Cys238del
ENST00000552876.5:n.1427_1429del
NM_001173466.1:c.985_987del	NP_001166937.1:p.Cys329del
NM_015665.5:c.1084_1086del	NP_056480.1:p.Cys362del
XM_006719617.2:c.1099_1101del	XP_006719680.1:p.Cys367del
XM_011538777.1:c.1099_1101del	XP_011537079.1:p.Cys367del
XM_011538778.1:c.1084_1086del	XP_011537080.1:p.Cys362del
XM_011538779.1:c.1000_1002del	XP_011537081.1:p.Cys334del
XM_011538780.1:c.985_987del	XP_011537082.1:p.Cys329del
XM_011538781.1:c.433_435del	XP_011537083.1:p.Cys145del
XM_011538778.2:c.1084_1086del	XP_011537080.1:p.Cys362del
XM_011538780.2:c.985_987del	XP_011537082.1:p.Cys329del
XR_001748875.2:n.1141_1143del
NM_015665.6:c.1084_1086del MANE Select	NP_056480.1:p.Cys362del
NM_001173466.2:c.985_987del	NP_001166937.1:p.Cys329del