Canonical Allele Identifier: CA2734098853

Gene: GAA

Linked Data

• dbSNP Id: rs2143822278

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104382dup , CM000679.2:g.80104382dup	GRCh38
NC_000017.10:g.78078181dup , CM000679.1:g.78078181dup	GRCh37
NC_000017.9:g.75692776dup	NCBI36
NG_009822.1:g.7827dup , LRG_673:g.7827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-32-173dup	ENSP00000460543.2:n.-32-173dup
ENST00000572080.2:c.-32-173dup	ENSP00000459972.2:n.-32-173dup
ENST00000577106.6:c.-32-173dup	ENSP00000458306.2:n.-32-173dup
ENST00000302262.8:c.-32-173dup MANE Select	ENSP00000305692.3:n.-32-173dup
ENST00000302262.7:c.-32-173dup	ENSP00000305692.3:n.-32-173dup
ENST00000390015.7:c.-32-173dup	ENSP00000374665.3:n.-32-173dup
ENST00000570803.5:c.-32-173dup	ENSP00000460543.1:n.-32-173dup
ENST00000577106.5:c.-32-173dup	ENSP00000458306.1:n.-32-173dup
NM_000152.3:c.-32-173dup , LRG_673t1:c.-32-173dup	NP_000143.2:n.-32-173dup
NM_001079803.1:c.-32-173dup	NP_001073271.1:n.-32-173dup
NM_001079804.1:c.-32-173dup	NP_001073272.1:n.-32-173dup
XM_005257193.1:c.-32-173dup	XP_005257250.1:n.-32-173dup
XM_005257194.3:c.-32-173dup	XP_005257251.1:n.-32-173dup
NM_000152.4:c.-32-173dup	NP_000143.2:n.-32-173dup
NM_001079803.2:c.-32-173dup	NP_001073271.1:n.-32-173dup
NM_001079804.2:c.-32-173dup	NP_001073272.1:n.-32-173dup
XM_005257193.2:c.-32-173dup	XP_005257250.1:n.-32-173dup
XM_005257194.4:c.-32-173dup	XP_005257251.1:n.-32-173dup
NM_000152.5:c.-32-173dup MANE Select	NP_000143.2:n.-32-173dup
NM_001079803.3:c.-32-173dup	NP_001073271.1:n.-32-173dup
NM_001079804.3:c.-32-173dup	NP_001073272.1:n.-32-173dup