Canonical Allele Identifier: CA6599031

Gene: AAAS

Linked Data

• dbSNP Id: rs777507615
• ExAC: 12:53702736 CCT / C
• gnomAD v2: 12-53702736-CCT-C
• gnomAD v4: 12-53308952-CCT-C
• MyVariant Identifiers: chr12:g.53702737_53702738del (hg19) ; chr12:g.53308953_53308954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308955_53308956del , CM000674.2:g.53308955_53308956del	GRCh38
NC_000012.11:g.53702739_53702740del , CM000674.1:g.53702739_53702740del	GRCh37
NC_000012.10:g.51989006_51989007del	NCBI36
NG_016775.1:g.17675_17676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.996+6_996+7del MANE Select	ENSP00000209873.4:n.996+6_996+7del
ENST00000546393.7:n.1841+6_1841+7del
ENST00000546562.6:n.2060+6_2060+7del
ENST00000547238.6:n.1632+6_1632+7del
ENST00000547520.6:n.990+6_990+7del
ENST00000547757.2:c.45+6_45+7del	ENSP00000448020.2:n.45+6_45+7del
ENST00000548880.2:n.1446+6_1446+7del
ENST00000548931.6:c.516+6_516+7del	ENSP00000457518.1:n.516+6_516+7del
ENST00000549450.6:n.930+6_930+7del
ENST00000552161.6:n.1952+6_1952+7del
ENST00000672797.1:n.1449+6_1449+7del
ENST00000672900.1:n.1800_1801del
ENST00000209873.8:c.996+6_996+7del	ENSP00000209873.4:n.996+6_996+7del
ENST00000394384.7:c.897+6_897+7del	ENSP00000377908.3:n.897+6_897+7del
ENST00000547520.5:n.700+6_700+7del
ENST00000548931.5:c.516+6_516+7del	ENSP00000457518.1:n.516+6_516+7del
ENST00000550033.5:n.251+6_251+7del
ENST00000550286.5:c.624+6_624+7del	ENSP00000446885.1:n.624+6_624+7del
ENST00000552876.5:n.1339+6_1339+7del
NM_001173466.1:c.897+6_897+7del	NP_001166937.1:n.897+6_897+7del
NM_015665.5:c.996+6_996+7del	NP_056480.1:n.996+6_996+7del
XM_006719617.2:c.1011+6_1011+7del	XP_006719680.1:n.1011+6_1011+7del
XM_006719619.2:c.1011+6_1011+7del	XP_006719682.1:n.1011+6_1011+7del
XM_011538777.1:c.1011+6_1011+7del	XP_011537079.1:n.1011+6_1011+7del
XM_011538778.1:c.996+6_996+7del	XP_011537080.1:n.996+6_996+7del
XM_011538779.1:c.912+6_912+7del	XP_011537081.1:n.912+6_912+7del
XM_011538780.1:c.897+6_897+7del	XP_011537082.1:n.897+6_897+7del
XM_011538781.1:c.345+6_345+7del	XP_011537083.1:n.345+6_345+7del
XM_011538778.2:c.996+6_996+7del	XP_011537080.1:n.996+6_996+7del
XM_011538780.2:c.897+6_897+7del	XP_011537082.1:n.897+6_897+7del
XR_001748875.2:n.1017+6_1017+7del
NM_015665.6:c.996+6_996+7del MANE Select	NP_056480.1:n.996+6_996+7del
NM_001173466.2:c.897+6_897+7del	NP_001166937.1:n.897+6_897+7del