Canonical Allele Identifier: CA2036909579

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307681_53307682delinsCG , CM000674.2:g.53307681_53307682delinsCG	GRCh38
NC_000012.11:g.53701465_53701466delinsCG , CM000674.1:g.53701465_53701466delinsCG	GRCh37
NC_000012.10:g.51987732_51987733delinsCG	NCBI36
NG_016775.1:g.18947_18948delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1448_1449delinsCG MANE Select	ENSP00000209873.4:p.Pro483=
ENST00000546562.6:n.2512_2513delinsCG
ENST00000547238.6:n.2084_2085delinsCG
ENST00000547520.6:n.1564_1565delinsCG
ENST00000547757.2:c.*366_*367delinsCG	ENSP00000448020.2:n.*366_*367delinsCG
ENST00000548880.2:n.1898_1899delinsCG
ENST00000548931.6:c.883_884delinsCG	ENSP00000457518.1:p.Arg295=
ENST00000549450.6:n.1382_1383delinsCG
ENST00000552161.6:n.2526_2527delinsCG
ENST00000672797.1:n.1937_1938delinsCG
ENST00000209873.8:c.1448_1449delinsCG	ENSP00000209873.4:p.Pro483=
ENST00000394384.7:c.1349_1350delinsCG	ENSP00000377908.3:p.Pro450=
ENST00000548931.5:c.883_884delinsCG	ENSP00000457518.1:p.Arg295=
ENST00000550286.5:c.1076_1077delinsCG	ENSP00000446885.1:p.Pro359=
ENST00000552876.5:n.1791_1792delinsCG
NM_001173466.1:c.1349_1350delinsCG	NP_001166937.1:p.Pro450=
NM_015665.5:c.1448_1449delinsCG	NP_056480.1:p.Pro483=
XM_006719617.2:c.1463_1464delinsCG	XP_006719680.1:p.Pro488=
XM_011538777.1:c.1505_1506delinsCG	XP_011537079.1:p.Pro502=
XM_011538778.1:c.1490_1491delinsCG	XP_011537080.1:p.Pro497=
XM_011538779.1:c.1406_1407delinsCG	XP_011537081.1:p.Pro469=
XM_011538780.1:c.1391_1392delinsCG	XP_011537082.1:p.Pro464=
XM_011538781.1:c.839_840delinsCG	XP_011537083.1:p.Pro280=
XM_011538778.2:c.1490_1491delinsCG	XP_011537080.1:p.Pro497=
XM_011538780.2:c.1391_1392delinsCG	XP_011537082.1:p.Pro464=
XR_001748875.2:n.1505_1506delinsCG
NM_015665.6:c.1448_1449delinsCG MANE Select	NP_056480.1:p.Pro483=
NM_001173466.2:c.1349_1350delinsCG	NP_001166937.1:p.Pro450=