Canonical Allele Identifier: CA2036909479

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307479_53307481delinsTTA , CM000674.2:g.53307479_53307481delinsTTA	GRCh38
NC_000012.11:g.53701263_53701265delinsTTA , CM000674.1:g.53701263_53701265delinsTTA	GRCh37
NC_000012.10:g.51987530_51987532delinsTTA	NCBI36
NG_016775.1:g.19148_19150delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.*8_*10delinsTAA MANE Select	ENSP00000209873.4:n.*8_*10delinsTAA
ENST00000547757.2:c.*567_*569delinsTAA	ENSP00000448020.2:n.*567_*569delinsTAA
ENST00000548931.6:c.1084_1086delinsTAA	ENSP00000457518.1:n.1084_1086delinsTAA
ENST00000549450.6:n.1583_1585delinsTAA
ENST00000209873.8:c.*8_*10delinsTAA	ENSP00000209873.4:n.*8_*10delinsTAA
ENST00000394384.7:c.*8_*10delinsTAA	ENSP00000377908.3:n.*8_*10delinsTAA
ENST00000550286.5:c.*8_*10delinsTAA	ENSP00000446885.1:n.*8_*10delinsTAA
ENST00000552876.5:n.1992_1994delinsTAA
NM_001173466.1:c.*8_*10delinsTAA	NP_001166937.1:n.*8_*10delinsTAA
NM_015665.5:c.*8_*10delinsTAA	NP_056480.1:n.*8_*10delinsTAA
XM_006719617.2:c.*8_*10delinsTAA	XP_006719680.1:n.*8_*10delinsTAA
XM_011538777.1:c.*8_*10delinsTAA	XP_011537079.1:n.*8_*10delinsTAA
XM_011538778.1:c.*8_*10delinsTAA	XP_011537080.1:n.*8_*10delinsTAA
XM_011538779.1:c.*8_*10delinsTAA	XP_011537081.1:n.*8_*10delinsTAA
XM_011538780.1:c.*8_*10delinsTAA	XP_011537082.1:n.*8_*10delinsTAA
XM_011538781.1:c.*8_*10delinsTAA	XP_011537083.1:n.*8_*10delinsTAA
XM_011538778.2:c.*8_*10delinsTAA	XP_011537080.1:n.*8_*10delinsTAA
XM_011538780.2:c.*8_*10delinsTAA	XP_011537082.1:n.*8_*10delinsTAA
NM_015665.6:c.*8_*10delinsTAA MANE Select	NP_056480.1:n.*8_*10delinsTAA
NM_001173466.2:c.*8_*10delinsTAA	NP_001166937.1:n.*8_*10delinsTAA