Canonical Allele Identifier: CA2619037061

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307617-G-GGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307619_53307620insCGG , CM000674.2:g.53307619_53307620insCGG	GRCh38
NC_000012.11:g.53701403_53701404insCGG , CM000674.1:g.53701403_53701404insCGG	GRCh37
NC_000012.10:g.51987670_51987671insCGG	NCBI36
NG_016775.1:g.19011_19012insGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1512_1513insGCC MANE Select	ENSP00000209873.4:p.Pro504_Pro505insAla
ENST00000546562.6:n.2576_2577insGCC
ENST00000547238.6:n.2148_2149insGCC
ENST00000547520.6:n.1628_1629insGCC
ENST00000547757.2:c.*430_*431insGCC	ENSP00000448020.2:n.*430_*431insGCC
ENST00000548931.6:c.947_948insGCC	ENSP00000457518.1:p.Pro316_Leu317insPro
ENST00000549450.6:n.1446_1447insGCC
ENST00000672797.1:n.2001_2002insGCC
ENST00000209873.8:c.1512_1513insGCC	ENSP00000209873.4:p.Pro504_Pro505insAla
ENST00000394384.7:c.1413_1414insGCC	ENSP00000377908.3:p.Pro471_Pro472insAla
ENST00000548931.5:c.947_948insGCC	ENSP00000457518.1:p.Pro316_Leu317insPro
ENST00000550286.5:c.1140_1141insGCC	ENSP00000446885.1:p.Pro380_Pro381insAla
ENST00000552876.5:n.1855_1856insGCC
NM_001173466.1:c.1413_1414insGCC	NP_001166937.1:p.Pro471_Pro472insAla
NM_015665.5:c.1512_1513insGCC	NP_056480.1:p.Pro504_Pro505insAla
XM_006719617.2:c.1527_1528insGCC	XP_006719680.1:p.Pro509_Pro510insAla
XM_011538777.1:c.1569_1570insGCC	XP_011537079.1:p.Pro523_Pro524insAla
XM_011538778.1:c.1554_1555insGCC	XP_011537080.1:p.Pro518_Pro519insAla
XM_011538779.1:c.1470_1471insGCC	XP_011537081.1:p.Pro490_Pro491insAla
XM_011538780.1:c.1455_1456insGCC	XP_011537082.1:p.Pro485_Pro486insAla
XM_011538781.1:c.903_904insGCC	XP_011537083.1:p.Pro301_Pro302insAla
XM_011538778.2:c.1554_1555insGCC	XP_011537080.1:p.Pro518_Pro519insAla
XM_011538780.2:c.1455_1456insGCC	XP_011537082.1:p.Pro485_Pro486insAla
XR_001748875.2:n.1569_1570insGCC
NM_015665.6:c.1512_1513insGCC MANE Select	NP_056480.1:p.Pro504_Pro505insAla
NM_001173466.2:c.1413_1414insGCC	NP_001166937.1:p.Pro471_Pro472insAla