Canonical Allele Identifier: CA2036909545

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307628_53307634delinsGCCCGCC , CM000674.2:g.53307628_53307634delinsGCCCGCC	GRCh38
NC_000012.11:g.53701412_53701418delinsGCCCGCC , CM000674.1:g.53701412_53701418delinsGCCCGCC	GRCh37
NC_000012.10:g.51987679_51987685delinsGCCCGCC	NCBI36
NG_016775.1:g.18995_19001delinsGGCGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1496_1502delinsGGCGGGC MANE Select	ENSP00000209873.4:p.Gly499=
ENST00000546562.6:n.2560_2566delinsGGCGGGC
ENST00000547238.6:n.2132_2138delinsGGCGGGC
ENST00000547520.6:n.1612_1618delinsGGCGGGC
ENST00000547757.2:c.*414_*420delinsGGCGGGC	ENSP00000448020.2:n.*414_*420delinsGGCGGGC
ENST00000548931.6:c.931_937delinsGGCGGGC	ENSP00000457518.1:p.Gly311=
ENST00000549450.6:n.1430_1436delinsGGCGGGC
ENST00000672797.1:n.1985_1991delinsGGCGGGC
ENST00000209873.8:c.1496_1502delinsGGCGGGC	ENSP00000209873.4:p.Gly499=
ENST00000394384.7:c.1397_1403delinsGGCGGGC	ENSP00000377908.3:p.Gly466=
ENST00000548931.5:c.931_937delinsGGCGGGC	ENSP00000457518.1:p.Gly311=
ENST00000550286.5:c.1124_1130delinsGGCGGGC	ENSP00000446885.1:p.Gly375=
ENST00000552876.5:n.1839_1845delinsGGCGGGC
NM_001173466.1:c.1397_1403delinsGGCGGGC	NP_001166937.1:p.Gly466=
NM_015665.5:c.1496_1502delinsGGCGGGC	NP_056480.1:p.Gly499=
XM_006719617.2:c.1511_1517delinsGGCGGGC	XP_006719680.1:p.Gly504=
XM_011538777.1:c.1553_1559delinsGGCGGGC	XP_011537079.1:p.Gly518=
XM_011538778.1:c.1538_1544delinsGGCGGGC	XP_011537080.1:p.Gly513=
XM_011538779.1:c.1454_1460delinsGGCGGGC	XP_011537081.1:p.Gly485=
XM_011538780.1:c.1439_1445delinsGGCGGGC	XP_011537082.1:p.Gly480=
XM_011538781.1:c.887_893delinsGGCGGGC	XP_011537083.1:p.Gly296=
XM_011538778.2:c.1538_1544delinsGGCGGGC	XP_011537080.1:p.Gly513=
XM_011538780.2:c.1439_1445delinsGGCGGGC	XP_011537082.1:p.Gly480=
XR_001748875.2:n.1553_1559delinsGGCGGGC
NM_015665.6:c.1496_1502delinsGGCGGGC MANE Select	NP_056480.1:p.Gly499=
NM_001173466.2:c.1397_1403delinsGGCGGGC	NP_001166937.1:p.Gly466=