Canonical Allele Identifier: CA8815206

Gene: GAA

Linked Data

• dbSNP Id: rs779971620
• ExAC: 17:78082430 A / AG
• gnomAD v2: 17-78082430-A-AG
• gnomAD v4: 17-80108631-A-AG
• MyVariant Identifiers: chr17:g.78082430_78082431insG (hg19) ; chr17:g.80108631_80108632insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108633dup , CM000679.2:g.80108633dup	GRCh38
NC_000017.10:g.78082432dup , CM000679.1:g.78082432dup	GRCh37
NC_000017.9:g.75697027dup	NCBI36
NG_009822.1:g.12078dup , LRG_673:g.12078dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1194+26dup	ENSP00000460543.2:n.1194+26dup
ENST00000572080.2:c.1194+26dup	ENSP00000459972.2:n.1194+26dup
ENST00000577106.6:c.1194+26dup	ENSP00000458306.2:n.1194+26dup
ENST00000302262.8:c.1194+26dup MANE Select	ENSP00000305692.3:n.1194+26dup
ENST00000302262.7:c.1194+26dup	ENSP00000305692.3:n.1194+26dup
ENST00000390015.7:c.1194+26dup	ENSP00000374665.3:n.1194+26dup
NM_000152.3:c.1194+26dup , LRG_673t1:c.1194+26dup	NP_000143.2:n.1194+26dup
NM_001079803.1:c.1194+26dup	NP_001073271.1:n.1194+26dup
NM_001079804.1:c.1194+26dup	NP_001073272.1:n.1194+26dup
XM_005257193.1:c.1194+26dup	XP_005257250.1:n.1194+26dup
XM_005257194.3:c.1194+26dup	XP_005257251.1:n.1194+26dup
NM_000152.4:c.1194+26dup	NP_000143.2:n.1194+26dup
NM_001079803.2:c.1194+26dup	NP_001073271.1:n.1194+26dup
NM_001079804.2:c.1194+26dup	NP_001073272.1:n.1194+26dup
XM_005257193.2:c.1194+26dup	XP_005257250.1:n.1194+26dup
XM_005257194.4:c.1194+26dup	XP_005257251.1:n.1194+26dup
NM_000152.5:c.1194+26dup MANE Select	NP_000143.2:n.1194+26dup
NM_001079803.3:c.1194+26dup	NP_001073271.1:n.1194+26dup
NM_001079804.3:c.1194+26dup	NP_001073272.1:n.1194+26dup