Canonical Allele Identifier: CA502167489

Gene: GAA

Linked Data

• MyVariant Identifiers: chr17:g.78092084dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118285dup , CM000679.2:g.80118285dup	GRCh38
NC_000017.10:g.78092084dup , CM000679.1:g.78092084dup	GRCh37
NC_000017.9:g.75706679dup	NCBI36
NG_009822.1:g.21730dup , LRG_673:g.21730dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2574dup	ENSP00000460543.2:p.Trp859LeufsTer25
ENST00000572080.2:c.*712dup	ENSP00000459972.2:n.*712dup
ENST00000577106.6:c.2574dup	ENSP00000458306.2:p.Trp859LeufsTer25
ENST00000302262.8:c.2574dup MANE Select	ENSP00000305692.3:p.Trp859LeufsTer25
ENST00000302262.7:c.2574dup	ENSP00000305692.3:p.Trp859LeufsTer25
ENST00000390015.7:c.2574dup	ENSP00000374665.3:p.Trp859LeufsTer25
ENST00000573556.1:n.527dup
NM_000152.3:c.2574dup , LRG_673t1:c.2574dup	NP_000143.2:p.Trp859LeufsTer25
NM_001079803.1:c.2574dup	NP_001073271.1:p.Trp859LeufsTer25
NM_001079804.1:c.2574dup	NP_001073272.1:p.Trp859LeufsTer25
XM_005257193.1:c.2574dup	XP_005257250.1:p.Trp859LeufsTer25
XM_005257194.3:c.2574dup	XP_005257251.1:p.Trp859LeufsTer25
NM_000152.4:c.2574dup	NP_000143.2:p.Trp859LeufsTer25
NM_001079803.2:c.2574dup	NP_001073271.1:p.Trp859LeufsTer25
NM_001079804.2:c.2574dup	NP_001073272.1:p.Trp859LeufsTer25
XM_005257193.2:c.2574dup	XP_005257250.1:p.Trp859LeufsTer25
XM_005257194.4:c.2574dup	XP_005257251.1:p.Trp859LeufsTer25
NM_000152.5:c.2574dup MANE Select	NP_000143.2:p.Trp859LeufsTer25
NM_001079803.3:c.2574dup	NP_001073271.1:p.Trp859LeufsTer25
NM_001079804.3:c.2574dup	NP_001073272.1:p.Trp859LeufsTer25