Canonical Allele Identifier: CA913014088

Gene: GAA

Linked Data

• MyVariant Identifiers: chr17:g.78081371dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107573dup , CM000679.2:g.80107573dup	GRCh38
NC_000017.10:g.78081372dup , CM000679.1:g.78081372dup	GRCh37
NC_000017.9:g.75695967dup	NCBI36
NG_009822.1:g.11018dup , LRG_673:g.11018dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.709dup	ENSP00000460543.2:p.Ala237GlyfsTer?
ENST00000572080.2:c.709dup	ENSP00000459972.2:p.Ala237GlyfsTer?
ENST00000577106.6:c.709dup	ENSP00000458306.2:p.Ala237GlyfsTer?
ENST00000302262.8:c.709dup MANE Select	ENSP00000305692.3:p.Ala237GlyfsTer?
ENST00000302262.7:c.709dup	ENSP00000305692.3:p.Ala237GlyfsTer?
ENST00000390015.7:c.709dup	ENSP00000374665.3:p.Ala237GlyfsTer?
ENST00000570803.5:c.709dup	ENSP00000460543.1:p.Ala237GlyfsTer?
NM_000152.3:c.709dup , LRG_673t1:c.709dup	NP_000143.2:p.Ala237GlyfsTer?
NM_001079803.1:c.709dup	NP_001073271.1:p.Ala237GlyfsTer?
NM_001079804.1:c.709dup	NP_001073272.1:p.Ala237GlyfsTer?
XM_005257193.1:c.709dup	XP_005257250.1:p.Ala237GlyfsTer?
XM_005257194.3:c.709dup	XP_005257251.1:p.Ala237GlyfsTer?
NM_000152.4:c.709dup	NP_000143.2:p.Ala237GlyfsTer?
NM_001079803.2:c.709dup	NP_001073271.1:p.Ala237GlyfsTer?
NM_001079804.2:c.709dup	NP_001073272.1:p.Ala237GlyfsTer?
XM_005257193.2:c.709dup	XP_005257250.1:p.Ala237GlyfsTer?
XM_005257194.4:c.709dup	XP_005257251.1:p.Ala237GlyfsTer?
NM_000152.5:c.709dup MANE Select	NP_000143.2:p.Ala237GlyfsTer?
NM_001079803.3:c.709dup	NP_001073271.1:p.Ala237GlyfsTer?
NM_001079804.3:c.709dup	NP_001073272.1:p.Ala237GlyfsTer?