Canonical Allele Identifier: CA2580095810

Gene: GAA

Linked Data

• ClinVar Variation Id: 1948246
• ClinVar RCV Id: RCV002667589
• gnomAD v4: 17-80113199-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113204dup , CM000679.2:g.80113204dup	GRCh38
NC_000017.10:g.78087003dup , CM000679.1:g.78087003dup	GRCh37
NC_000017.9:g.75701598dup	NCBI36
NG_009822.1:g.16649dup , LRG_673:g.16649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2041-14dup	ENSP00000460543.2:n.2041-14dup
ENST00000572080.2:c.*179-14dup	ENSP00000459972.2:n.*179-14dup
ENST00000577106.6:c.2041-14dup	ENSP00000458306.2:n.2041-14dup
ENST00000302262.8:c.2041-14dup MANE Select	ENSP00000305692.3:n.2041-14dup
ENST00000302262.7:c.2041-14dup	ENSP00000305692.3:n.2041-14dup
ENST00000390015.7:c.2041-14dup	ENSP00000374665.3:n.2041-14dup
ENST00000570716.1:n.481-14dup
ENST00000572080.1:c.460-14dup
NM_000152.3:c.2041-14dup , LRG_673t1:c.2041-14dup	NP_000143.2:n.2041-14dup
NM_001079803.1:c.2041-14dup	NP_001073271.1:n.2041-14dup
NM_001079804.1:c.2041-14dup	NP_001073272.1:n.2041-14dup
XM_005257193.1:c.2041-14dup	XP_005257250.1:n.2041-14dup
XM_005257194.3:c.2041-14dup	XP_005257251.1:n.2041-14dup
NM_000152.4:c.2041-14dup	NP_000143.2:n.2041-14dup
NM_001079803.2:c.2041-14dup	NP_001073271.1:n.2041-14dup
NM_001079804.2:c.2041-14dup	NP_001073272.1:n.2041-14dup
XM_005257193.2:c.2041-14dup	XP_005257250.1:n.2041-14dup
XM_005257194.4:c.2041-14dup	XP_005257251.1:n.2041-14dup
NM_000152.5:c.2041-14dup MANE Select	NP_000143.2:n.2041-14dup
NM_001079803.3:c.2041-14dup	NP_001073271.1:n.2041-14dup
NM_001079804.3:c.2041-14dup	NP_001073272.1:n.2041-14dup