Canonical Allele Identifier: CA2036897477

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307456_53307457delinsTG , CM000674.2:g.53307456_53307457delinsTG	GRCh38
NC_000012.11:g.53701240_53701241delinsTG , CM000674.1:g.53701240_53701241delinsTG	GRCh37
NC_000012.10:g.51987507_51987508delinsTG	NCBI36
NG_016775.1:g.19172_19173delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548931.6:c.1108_1109delinsCA	ENSP00000457518.1:n.1108_1109delinsCA
ENST00000209873.8:c.*32_*33delinsCA	ENSP00000209873.4:n.*32_*33delinsCA
NM_001173466.1:c.*32_*33delinsCA	NP_001166937.1:n.*32_*33delinsCA
NM_015665.5:c.*32_*33delinsCA	NP_056480.1:n.*32_*33delinsCA
XM_006719617.2:c.*32_*33delinsCA	XP_006719680.1:n.*32_*33delinsCA
XM_011538777.1:c.*32_*33delinsCA	XP_011537079.1:n.*32_*33delinsCA
XM_011538778.1:c.*32_*33delinsCA	XP_011537080.1:n.*32_*33delinsCA
XM_011538779.1:c.*32_*33delinsCA	XP_011537081.1:n.*32_*33delinsCA
XM_011538780.1:c.*32_*33delinsCA	XP_011537082.1:n.*32_*33delinsCA
XM_011538781.1:c.*32_*33delinsCA	XP_011537083.1:n.*32_*33delinsCA
XM_011538778.2:c.*32_*33delinsCA	XP_011537080.1:n.*32_*33delinsCA
XM_011538780.2:c.*32_*33delinsCA	XP_011537082.1:n.*32_*33delinsCA