Canonical Allele Identifier: CA2277812855

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108605_80108606delinsCT , CM000679.2:g.80108605_80108606delinsCT	GRCh38
NC_000017.10:g.78082404_78082405delinsCT , CM000679.1:g.78082404_78082405delinsCT	GRCh37
NC_000017.9:g.75696999_75697000delinsCT	NCBI36
NG_009822.1:g.12050_12051delinsCT , LRG_673:g.12050_12051delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1192_1193delinsCT	ENSP00000460543.2:p.Leu398=
ENST00000572080.2:c.1192_1193delinsCT	ENSP00000459972.2:p.Leu398=
ENST00000577106.6:c.1192_1193delinsCT	ENSP00000458306.2:p.Leu398=
ENST00000302262.8:c.1192_1193delinsCT MANE Select	ENSP00000305692.3:p.Leu398=
ENST00000302262.7:c.1192_1193delinsCT	ENSP00000305692.3:p.Leu398=
ENST00000390015.7:c.1192_1193delinsCT	ENSP00000374665.3:p.Leu398=
NM_000152.3:c.1192_1193delinsCT , LRG_673t1:c.1192_1193delinsCT	NP_000143.2:p.Leu398=
NM_001079803.1:c.1192_1193delinsCT	NP_001073271.1:p.Leu398=
NM_001079804.1:c.1192_1193delinsCT	NP_001073272.1:p.Leu398=
XM_005257193.1:c.1192_1193delinsCT	XP_005257250.1:p.Leu398=
XM_005257194.3:c.1192_1193delinsCT	XP_005257251.1:p.Leu398=
NM_000152.4:c.1192_1193delinsCT	NP_000143.2:p.Leu398=
NM_001079803.2:c.1192_1193delinsCT	NP_001073271.1:p.Leu398=
NM_001079804.2:c.1192_1193delinsCT	NP_001073272.1:p.Leu398=
XM_005257193.2:c.1192_1193delinsCT	XP_005257250.1:p.Leu398=
XM_005257194.4:c.1192_1193delinsCT	XP_005257251.1:p.Leu398=
NM_000152.5:c.1192_1193delinsCT MANE Select	NP_000143.2:p.Leu398=
NM_001079803.3:c.1192_1193delinsCT	NP_001073271.1:p.Leu398=
NM_001079804.3:c.1192_1193delinsCT	NP_001073272.1:p.Leu398=