Canonical Allele Identifier: CA2036909490

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307511_53307512delinsTG , CM000674.2:g.53307511_53307512delinsTG	GRCh38
NC_000012.11:g.53701295_53701296delinsTG , CM000674.1:g.53701295_53701296delinsTG	GRCh37
NC_000012.10:g.51987562_51987563delinsTG	NCBI36
NG_016775.1:g.19117_19118delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1618_1619delinsCA MANE Select	ENSP00000209873.4:p.His540=
ENST00000546562.6:n.2682_2683delinsCA
ENST00000547757.2:c.*536_*537delinsCA	ENSP00000448020.2:n.*536_*537delinsCA
ENST00000548931.6:c.1053_1054delinsCA	ENSP00000457518.1:p.Pro351=
ENST00000549450.6:n.1552_1553delinsCA
ENST00000209873.8:c.1618_1619delinsCA	ENSP00000209873.4:p.His540=
ENST00000394384.7:c.1519_1520delinsCA	ENSP00000377908.3:p.His507=
ENST00000548931.5:c.1053_1054delinsCA	ENSP00000457518.1:p.Pro351=
ENST00000550286.5:c.1246_1247delinsCA	ENSP00000446885.1:p.His416=
ENST00000552876.5:n.1961_1962delinsCA
NM_001173466.1:c.1519_1520delinsCA	NP_001166937.1:p.His507=
NM_015665.5:c.1618_1619delinsCA	NP_056480.1:p.His540=
XM_006719617.2:c.1633_1634delinsCA	XP_006719680.1:p.His545=
XM_011538777.1:c.1675_1676delinsCA	XP_011537079.1:p.His559=
XM_011538778.1:c.1660_1661delinsCA	XP_011537080.1:p.His554=
XM_011538779.1:c.1576_1577delinsCA	XP_011537081.1:p.His526=
XM_011538780.1:c.1561_1562delinsCA	XP_011537082.1:p.His521=
XM_011538781.1:c.1009_1010delinsCA	XP_011537083.1:p.His337=
XM_011538778.2:c.1660_1661delinsCA	XP_011537080.1:p.His554=
XM_011538780.2:c.1561_1562delinsCA	XP_011537082.1:p.His521=
XR_001748875.2:n.1675_1676delinsCA
NM_015665.6:c.1618_1619delinsCA MANE Select	NP_056480.1:p.His540=
NM_001173466.2:c.1519_1520delinsCA	NP_001166937.1:p.His507=