Canonical Allele Identifier: CA605243912

Gene: AAAS

Linked Data

• ClinVar Variation Id: 2794312
• ClinVar RCV Id: RCV003672765
• dbSNP Id: rs1179730272
• gnomAD v2: 12-53702728-CAG-C
• gnomAD v3: 12-53308944-CAG-C
• gnomAD v4: 12-53308944-CAG-C
• MyVariant Identifiers: chr12:g.53702729_53702730del (hg19) ; chr12:g.53308945_53308946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308947_53308948del , CM000674.2:g.53308947_53308948del	GRCh38
NC_000012.11:g.53702731_53702732del , CM000674.1:g.53702731_53702732del	GRCh37
NC_000012.10:g.51988998_51988999del	NCBI36
NG_016775.1:g.17683_17684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.996+14_996+15del MANE Select	ENSP00000209873.4:n.996+14_996+15del
ENST00000546393.7:n.1841+14_1841+15del
ENST00000546562.6:n.2060+14_2060+15del
ENST00000547238.6:n.1632+14_1632+15del
ENST00000547520.6:n.990+14_990+15del
ENST00000547757.2:c.45+14_45+15del	ENSP00000448020.2:n.45+14_45+15del
ENST00000548880.2:n.1446+14_1446+15del
ENST00000548931.6:c.516+14_516+15del	ENSP00000457518.1:n.516+14_516+15del
ENST00000549450.6:n.930+14_930+15del
ENST00000552161.6:n.1952+14_1952+15del
ENST00000672797.1:n.1449+14_1449+15del
ENST00000672900.1:n.1808_1809del
ENST00000209873.8:c.996+14_996+15del	ENSP00000209873.4:n.996+14_996+15del
ENST00000394384.7:c.897+14_897+15del	ENSP00000377908.3:n.897+14_897+15del
ENST00000547520.5:n.700+14_700+15del
ENST00000548931.5:c.516+14_516+15del	ENSP00000457518.1:n.516+14_516+15del
ENST00000550033.5:n.251+14_251+15del
ENST00000550286.5:c.624+14_624+15del	ENSP00000446885.1:n.624+14_624+15del
ENST00000552876.5:n.1339+14_1339+15del
NM_001173466.1:c.897+14_897+15del	NP_001166937.1:n.897+14_897+15del
NM_015665.5:c.996+14_996+15del	NP_056480.1:n.996+14_996+15del
XM_006719617.2:c.1011+14_1011+15del	XP_006719680.1:n.1011+14_1011+15del
XM_006719619.2:c.1011+14_1011+15del	XP_006719682.1:n.1011+14_1011+15del
XM_011538777.1:c.1011+14_1011+15del	XP_011537079.1:n.1011+14_1011+15del
XM_011538778.1:c.996+14_996+15del	XP_011537080.1:n.996+14_996+15del
XM_011538779.1:c.912+14_912+15del	XP_011537081.1:n.912+14_912+15del
XM_011538780.1:c.897+14_897+15del	XP_011537082.1:n.897+14_897+15del
XM_011538781.1:c.345+14_345+15del	XP_011537083.1:n.345+14_345+15del
XM_011538778.2:c.996+14_996+15del	XP_011537080.1:n.996+14_996+15del
XM_011538780.2:c.897+14_897+15del	XP_011537082.1:n.897+14_897+15del
XR_001748875.2:n.1017+14_1017+15del
NM_015665.6:c.996+14_996+15del MANE Select	NP_056480.1:n.996+14_996+15del
NM_001173466.2:c.897+14_897+15del	NP_001166937.1:n.897+14_897+15del