Canonical Allele Identifier: CA2277817230

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80116950_80116951delinsTG , CM000679.2:g.80116950_80116951delinsTG	GRCh38
NC_000017.10:g.78090749_78090750delinsTG , CM000679.1:g.78090749_78090750delinsTG	GRCh37
NC_000017.9:g.75705344_75705345delinsTG	NCBI36
NG_009822.1:g.20395_20396delinsTG , LRG_673:g.20395_20396delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2190-18_2190-17delinsTG	ENSP00000460543.2:n.2190-18_2190-17delinsTG
ENST00000572080.2:c.*328-18_*328-17delinsTG	ENSP00000459972.2:n.*328-18_*328-17delinsTG
ENST00000577106.6:c.2190-18_2190-17delinsTG	ENSP00000458306.2:n.2190-18_2190-17delinsTG
ENST00000302262.8:c.2190-18_2190-17delinsTG MANE Select	ENSP00000305692.3:n.2190-18_2190-17delinsTG
ENST00000302262.7:c.2190-18_2190-17delinsTG	ENSP00000305692.3:n.2190-18_2190-17delinsTG
ENST00000390015.7:c.2190-18_2190-17delinsTG	ENSP00000374665.3:n.2190-18_2190-17delinsTG
ENST00000572080.1:c.609-18_609-17delinsTG
ENST00000573556.1:n.125_126delinsTG
NM_000152.3:c.2190-18_2190-17delinsTG , LRG_673t1:c.2190-18_2190-17delinsTG	NP_000143.2:n.2190-18_2190-17delinsTG
NM_001079803.1:c.2190-18_2190-17delinsTG	NP_001073271.1:n.2190-18_2190-17delinsTG
NM_001079804.1:c.2190-18_2190-17delinsTG	NP_001073272.1:n.2190-18_2190-17delinsTG
XM_005257193.1:c.2190-18_2190-17delinsTG	XP_005257250.1:n.2190-18_2190-17delinsTG
XM_005257194.3:c.2190-18_2190-17delinsTG	XP_005257251.1:n.2190-18_2190-17delinsTG
NM_000152.4:c.2190-18_2190-17delinsTG	NP_000143.2:n.2190-18_2190-17delinsTG
NM_001079803.2:c.2190-18_2190-17delinsTG	NP_001073271.1:n.2190-18_2190-17delinsTG
NM_001079804.2:c.2190-18_2190-17delinsTG	NP_001073272.1:n.2190-18_2190-17delinsTG
XM_005257193.2:c.2190-18_2190-17delinsTG	XP_005257250.1:n.2190-18_2190-17delinsTG
XM_005257194.4:c.2190-18_2190-17delinsTG	XP_005257251.1:n.2190-18_2190-17delinsTG
NM_000152.5:c.2190-18_2190-17delinsTG MANE Select	NP_000143.2:n.2190-18_2190-17delinsTG
NM_001079803.3:c.2190-18_2190-17delinsTG	NP_001073271.1:n.2190-18_2190-17delinsTG
NM_001079804.3:c.2190-18_2190-17delinsTG	NP_001073272.1:n.2190-18_2190-17delinsTG