Canonical Allele Identifier: CA2036910100

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308744_53308746delinsCAG , CM000674.2:g.53308744_53308746delinsCAG	GRCh38
NC_000012.11:g.53702528_53702530delinsCAG , CM000674.1:g.53702528_53702530delinsCAG	GRCh37
NC_000012.10:g.51988795_51988797delinsCAG	NCBI36
NG_016775.1:g.17883_17885delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1066_1068delinsCTG MANE Select	ENSP00000209873.4:p.Leu356=
ENST00000546562.6:n.2130_2132delinsCTG
ENST00000547238.6:n.1702_1704delinsCTG
ENST00000547520.6:n.1060_1062delinsCTG
ENST00000547757.2:c.115_117delinsCTG	ENSP00000448020.2:p.Leu39=
ENST00000548880.2:n.1516_1518delinsCTG
ENST00000548931.6:c.586_588delinsCTG	ENSP00000457518.1:p.Leu196=
ENST00000549450.6:n.1000_1002delinsCTG
ENST00000552161.6:n.2022_2024delinsCTG
ENST00000672797.1:n.1555_1557delinsCTG
ENST00000672900.1:n.2008_2010delinsCTG
ENST00000209873.8:c.1066_1068delinsCTG	ENSP00000209873.4:p.Leu356=
ENST00000394384.7:c.967_969delinsCTG	ENSP00000377908.3:p.Leu323=
ENST00000548931.5:c.586_588delinsCTG	ENSP00000457518.1:p.Leu196=
ENST00000550033.5:n.321_323delinsCTG
ENST00000550286.5:c.694_696delinsCTG	ENSP00000446885.1:p.Leu232=
ENST00000552876.5:n.1409_1411delinsCTG
NM_001173466.1:c.967_969delinsCTG	NP_001166937.1:p.Leu323=
NM_015665.5:c.1066_1068delinsCTG	NP_056480.1:p.Leu356=
XM_006719617.2:c.1081_1083delinsCTG	XP_006719680.1:p.Leu361=
XM_011538777.1:c.1081_1083delinsCTG	XP_011537079.1:p.Leu361=
XM_011538778.1:c.1066_1068delinsCTG	XP_011537080.1:p.Leu356=
XM_011538779.1:c.982_984delinsCTG	XP_011537081.1:p.Leu328=
XM_011538780.1:c.967_969delinsCTG	XP_011537082.1:p.Leu323=
XM_011538781.1:c.415_417delinsCTG	XP_011537083.1:p.Leu139=
XM_011538778.2:c.1066_1068delinsCTG	XP_011537080.1:p.Leu356=
XM_011538780.2:c.967_969delinsCTG	XP_011537082.1:p.Leu323=
XR_001748875.2:n.1123_1125delinsCTG
NM_015665.6:c.1066_1068delinsCTG MANE Select	NP_056480.1:p.Leu356=
NM_001173466.2:c.967_969delinsCTG	NP_001166937.1:p.Leu323=