Canonical Allele Identifier: CA2036909513

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307553_53307554delinsGC , CM000674.2:g.53307553_53307554delinsGC	GRCh38
NC_000012.11:g.53701337_53701338delinsGC , CM000674.1:g.53701337_53701338delinsGC	GRCh37
NC_000012.10:g.51987604_51987605delinsGC	NCBI36
NG_016775.1:g.19075_19076delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1576_1577delinsGC MANE Select	ENSP00000209873.4:p.Ala526=
ENST00000546562.6:n.2640_2641delinsGC
ENST00000547238.6:n.2212_2213delinsGC
ENST00000547520.6:n.1692_1693delinsGC
ENST00000547757.2:c.*494_*495delinsGC	ENSP00000448020.2:n.*494_*495delinsGC
ENST00000548931.6:c.1011_1012delinsGC	ENSP00000457518.1:p.Leu337=
ENST00000549450.6:n.1510_1511delinsGC
ENST00000672797.1:n.2065_2066delinsGC
ENST00000209873.8:c.1576_1577delinsGC	ENSP00000209873.4:p.Ala526=
ENST00000394384.7:c.1477_1478delinsGC	ENSP00000377908.3:p.Ala493=
ENST00000548931.5:c.1011_1012delinsGC	ENSP00000457518.1:p.Leu337=
ENST00000550286.5:c.1204_1205delinsGC	ENSP00000446885.1:p.Ala402=
ENST00000552876.5:n.1919_1920delinsGC
NM_001173466.1:c.1477_1478delinsGC	NP_001166937.1:p.Ala493=
NM_015665.5:c.1576_1577delinsGC	NP_056480.1:p.Ala526=
XM_006719617.2:c.1591_1592delinsGC	XP_006719680.1:p.Ala531=
XM_011538777.1:c.1633_1634delinsGC	XP_011537079.1:p.Ala545=
XM_011538778.1:c.1618_1619delinsGC	XP_011537080.1:p.Ala540=
XM_011538779.1:c.1534_1535delinsGC	XP_011537081.1:p.Ala512=
XM_011538780.1:c.1519_1520delinsGC	XP_011537082.1:p.Ala507=
XM_011538781.1:c.967_968delinsGC	XP_011537083.1:p.Ala323=
XM_011538778.2:c.1618_1619delinsGC	XP_011537080.1:p.Ala540=
XM_011538780.2:c.1519_1520delinsGC	XP_011537082.1:p.Ala507=
XR_001748875.2:n.1633_1634delinsGC
NM_015665.6:c.1576_1577delinsGC MANE Select	NP_056480.1:p.Ala526=
NM_001173466.2:c.1477_1478delinsGC	NP_001166937.1:p.Ala493=