Canonical Allele Identifier: CA658824772

Gene: GAA

Linked Data

• ClinVar Variation Id: 555040
• ClinVar RCV Id: RCV000670780
• dbSNP Id: rs1555598544
• MyVariant Identifiers: chr17:g.80104641del (hg38)
• ERepo: CA658824772/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104641del , CM000679.2:g.80104641del	GRCh38
NC_000017.10:g.78078440del , CM000679.1:g.78078440del	GRCh37
NC_000017.9:g.75693035del	NCBI36
NG_009822.1:g.8086del , LRG_673:g.8086del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.55del	ENSP00000460543.2:p.Val19CysfsTer24
ENST00000572080.2:c.55del	ENSP00000459972.2:p.Val19CysfsTer24
ENST00000577106.6:c.55del	ENSP00000458306.2:p.Val19CysfsTer24
ENST00000302262.8:c.55del MANE Select	ENSP00000305692.3:p.Val19CysfsTer24
ENST00000302262.7:c.55del	ENSP00000305692.3:p.Val19CysfsTer24
ENST00000390015.7:c.55del	ENSP00000374665.3:p.Val19CysfsTer24
ENST00000570803.5:c.55del	ENSP00000460543.1:p.Val19CysfsTer24
ENST00000577106.5:c.55del	ENSP00000458306.1:p.Val19CysfsTer24
NM_000152.3:c.55del , LRG_673t1:c.55del	NP_000143.2:p.Val19CysfsTer24
NM_001079803.1:c.55del	NP_001073271.1:p.Val19CysfsTer24
NM_001079804.1:c.55del	NP_001073272.1:p.Val19CysfsTer24
XM_005257193.1:c.55del	XP_005257250.1:p.Val19CysfsTer24
XM_005257194.3:c.55del	XP_005257251.1:p.Val19CysfsTer24
NM_000152.4:c.55del	NP_000143.2:p.Val19CysfsTer24
NM_001079803.2:c.55del	NP_001073271.1:p.Val19CysfsTer24
NM_001079804.2:c.55del	NP_001073272.1:p.Val19CysfsTer24
XM_005257193.2:c.55del	XP_005257250.1:p.Val19CysfsTer24
XM_005257194.4:c.55del	XP_005257251.1:p.Val19CysfsTer24
NM_000152.5:c.55del MANE Select	NP_000143.2:p.Val19CysfsTer24
NM_001079803.3:c.55del	NP_001073271.1:p.Val19CysfsTer24
NM_001079804.3:c.55del	NP_001073272.1:p.Val19CysfsTer24