Canonical Allele Identifier: CA658824778

Gene: GAA

Linked Data

• ClinVar Variation Id: 558393
• ClinVar RCV Id: RCV000674654 ; RCV002223239
• dbSNP Id: rs1555599586
• MyVariant Identifiers: chr17:g.80107575_80107576dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107575_80107576dup , CM000679.2:g.80107575_80107576dup	GRCh38
NC_000017.10:g.78081374_78081375dup , CM000679.1:g.78081374_78081375dup	GRCh37
NC_000017.9:g.75695969_75695970dup	NCBI36
NG_009822.1:g.11020_11021dup , LRG_673:g.11020_11021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.711_712dup	ENSP00000460543.2:p.Pro238ArgfsTer31
ENST00000572080.2:c.711_712dup	ENSP00000459972.2:p.Pro238ArgfsTer31
ENST00000577106.6:c.711_712dup	ENSP00000458306.2:p.Pro238ArgfsTer31
ENST00000302262.8:c.711_712dup MANE Select	ENSP00000305692.3:p.Pro238ArgfsTer31
ENST00000302262.7:c.711_712dup	ENSP00000305692.3:p.Pro238ArgfsTer31
ENST00000390015.7:c.711_712dup	ENSP00000374665.3:p.Pro238ArgfsTer31
ENST00000570803.5:c.711_712dup	ENSP00000460543.1:p.Pro238ArgfsTer31
NM_000152.3:c.711_712dup , LRG_673t1:c.711_712dup	NP_000143.2:p.Pro238ArgfsTer31
NM_001079803.1:c.711_712dup	NP_001073271.1:p.Pro238ArgfsTer31
NM_001079804.1:c.711_712dup	NP_001073272.1:p.Pro238ArgfsTer31
XM_005257193.1:c.711_712dup	XP_005257250.1:p.Pro238ArgfsTer31
XM_005257194.3:c.711_712dup	XP_005257251.1:p.Pro238ArgfsTer31
NM_000152.4:c.711_712dup	NP_000143.2:p.Pro238ArgfsTer31
NM_001079803.2:c.711_712dup	NP_001073271.1:p.Pro238ArgfsTer31
NM_001079804.2:c.711_712dup	NP_001073272.1:p.Pro238ArgfsTer31
XM_005257193.2:c.711_712dup	XP_005257250.1:p.Pro238ArgfsTer31
XM_005257194.4:c.711_712dup	XP_005257251.1:p.Pro238ArgfsTer31
NM_000152.5:c.711_712dup MANE Select	NP_000143.2:p.Pro238ArgfsTer31
NM_001079803.3:c.711_712dup	NP_001073271.1:p.Pro238ArgfsTer31
NM_001079804.3:c.711_712dup	NP_001073272.1:p.Pro238ArgfsTer31