Canonical Allele Identifier: CA2277815470

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112936_80112937delinsTG , CM000679.2:g.80112936_80112937delinsTG	GRCh38
NC_000017.10:g.78086735_78086736delinsTG , CM000679.1:g.78086735_78086736delinsTG	GRCh37
NC_000017.9:g.75701330_75701331delinsTG	NCBI36
NG_009822.1:g.16381_16382delinsTG , LRG_673:g.16381_16382delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1949_1950delinsTG	ENSP00000460543.2:p.Leu650=
ENST00000572080.2:c.*87_*88delinsTG	ENSP00000459972.2:n.*87_*88delinsTG
ENST00000577106.6:c.1949_1950delinsTG	ENSP00000458306.2:p.Leu650=
ENST00000302262.8:c.1949_1950delinsTG MANE Select	ENSP00000305692.3:p.Leu650=
ENST00000302262.7:c.1949_1950delinsTG	ENSP00000305692.3:p.Leu650=
ENST00000390015.7:c.1949_1950delinsTG	ENSP00000374665.3:p.Leu650=
ENST00000570716.1:n.389_390delinsTG
ENST00000572080.1:c.368_369delinsTG
ENST00000572803.1:n.563_564delinsTG
NM_000152.3:c.1949_1950delinsTG , LRG_673t1:c.1949_1950delinsTG	NP_000143.2:p.Leu650=
NM_001079803.1:c.1949_1950delinsTG	NP_001073271.1:p.Leu650=
NM_001079804.1:c.1949_1950delinsTG	NP_001073272.1:p.Leu650=
XM_005257193.1:c.1949_1950delinsTG	XP_005257250.1:p.Leu650=
XM_005257194.3:c.1949_1950delinsTG	XP_005257251.1:p.Leu650=
NM_000152.4:c.1949_1950delinsTG	NP_000143.2:p.Leu650=
NM_001079803.2:c.1949_1950delinsTG	NP_001073271.1:p.Leu650=
NM_001079804.2:c.1949_1950delinsTG	NP_001073272.1:p.Leu650=
XM_005257193.2:c.1949_1950delinsTG	XP_005257250.1:p.Leu650=
XM_005257194.4:c.1949_1950delinsTG	XP_005257251.1:p.Leu650=
NM_000152.5:c.1949_1950delinsTG MANE Select	NP_000143.2:p.Leu650=
NM_001079803.3:c.1949_1950delinsTG	NP_001073271.1:p.Leu650=
NM_001079804.3:c.1949_1950delinsTG	NP_001073272.1:p.Leu650=