Canonical Allele Identifier: CA628018395

Gene: GAA

Linked Data

• dbSNP Id: rs1298159836
• gnomAD v2: 17-78086607-C-CT
• gnomAD v3: 17-80112808-C-CT
• gnomAD v4: 17-80112808-C-CT
• MyVariant Identifiers: chr17:g.78086607_78086608insT (hg19) ; chr17:g.80112808_80112809insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112809dup , CM000679.2:g.80112809dup	GRCh38
NC_000017.10:g.78086608dup , CM000679.1:g.78086608dup	GRCh37
NC_000017.9:g.75701203dup	NCBI36
NG_009822.1:g.16254dup , LRG_673:g.16254dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1889-67dup	ENSP00000460543.2:n.1889-67dup
ENST00000572080.2:c.1889-36dup	ENSP00000459972.2:n.1889-36dup
ENST00000577106.6:c.1889-67dup	ENSP00000458306.2:n.1889-67dup
ENST00000302262.8:c.1889-67dup MANE Select	ENSP00000305692.3:n.1889-67dup
ENST00000302262.7:c.1889-67dup	ENSP00000305692.3:n.1889-67dup
ENST00000390015.7:c.1889-67dup	ENSP00000374665.3:n.1889-67dup
ENST00000570716.1:n.329-67dup
ENST00000572080.1:c.277-36dup
ENST00000572803.1:n.503-67dup
NM_000152.3:c.1889-67dup , LRG_673t1:c.1889-67dup	NP_000143.2:n.1889-67dup
NM_001079803.1:c.1889-67dup	NP_001073271.1:n.1889-67dup
NM_001079804.1:c.1889-67dup	NP_001073272.1:n.1889-67dup
XM_005257193.1:c.1889-67dup	XP_005257250.1:n.1889-67dup
XM_005257194.3:c.1889-67dup	XP_005257251.1:n.1889-67dup
NM_000152.4:c.1889-67dup	NP_000143.2:n.1889-67dup
NM_001079803.2:c.1889-67dup	NP_001073271.1:n.1889-67dup
NM_001079804.2:c.1889-67dup	NP_001073272.1:n.1889-67dup
XM_005257193.2:c.1889-67dup	XP_005257250.1:n.1889-67dup
XM_005257194.4:c.1889-67dup	XP_005257251.1:n.1889-67dup
NM_000152.5:c.1889-67dup MANE Select	NP_000143.2:n.1889-67dup
NM_001079803.3:c.1889-67dup	NP_001073271.1:n.1889-67dup
NM_001079804.3:c.1889-67dup	NP_001073272.1:n.1889-67dup