Canonical Allele Identifier: CA2036909477

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307478_53307479delinsCT , CM000674.2:g.53307478_53307479delinsCT	GRCh38
NC_000012.11:g.53701262_53701263delinsCT , CM000674.1:g.53701262_53701263delinsCT	GRCh37
NC_000012.10:g.51987529_51987530delinsCT	NCBI36
NG_016775.1:g.19150_19151delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.*10_*11delinsAG MANE Select	ENSP00000209873.4:n.*10_*11delinsAG
ENST00000547757.2:c.*569_*570delinsAG	ENSP00000448020.2:n.*569_*570delinsAG
ENST00000548931.6:c.1086_1087delinsAG	ENSP00000457518.1:n.1086_1087delinsAG
ENST00000549450.6:n.1585_1586delinsAG
ENST00000209873.8:c.*10_*11delinsAG	ENSP00000209873.4:n.*10_*11delinsAG
ENST00000394384.7:c.*10_*11delinsAG	ENSP00000377908.3:n.*10_*11delinsAG
ENST00000550286.5:c.*10_*11delinsAG	ENSP00000446885.1:n.*10_*11delinsAG
ENST00000552876.5:n.1994_1995delinsAG
NM_001173466.1:c.*10_*11delinsAG	NP_001166937.1:n.*10_*11delinsAG
NM_015665.5:c.*10_*11delinsAG	NP_056480.1:n.*10_*11delinsAG
XM_006719617.2:c.*10_*11delinsAG	XP_006719680.1:n.*10_*11delinsAG
XM_011538777.1:c.*10_*11delinsAG	XP_011537079.1:n.*10_*11delinsAG
XM_011538778.1:c.*10_*11delinsAG	XP_011537080.1:n.*10_*11delinsAG
XM_011538779.1:c.*10_*11delinsAG	XP_011537081.1:n.*10_*11delinsAG
XM_011538780.1:c.*10_*11delinsAG	XP_011537082.1:n.*10_*11delinsAG
XM_011538781.1:c.*10_*11delinsAG	XP_011537083.1:n.*10_*11delinsAG
XM_011538778.2:c.*10_*11delinsAG	XP_011537080.1:n.*10_*11delinsAG
XM_011538780.2:c.*10_*11delinsAG	XP_011537082.1:n.*10_*11delinsAG
NM_015665.6:c.*10_*11delinsAG MANE Select	NP_056480.1:n.*10_*11delinsAG
NM_001173466.2:c.*10_*11delinsAG	NP_001166937.1:n.*10_*11delinsAG