Canonical Allele Identifier: CA658795282

Gene: GAA

Linked Data

• ClinVar Variation Id: 555341
• ClinVar RCV Id: RCV000671142 ; RCV003140068
• dbSNP Id: rs1555602692
• MyVariant Identifiers: chr17:g.80117078del (hg38)
• ERepo: CA658795282/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117078del , CM000679.2:g.80117078del	GRCh38
NC_000017.10:g.78090877del , CM000679.1:g.78090877del	GRCh37
NC_000017.9:g.75705472del	NCBI36
NG_009822.1:g.20523del , LRG_673:g.20523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2300del	ENSP00000460543.2:p.Phe767SerfsTer14
ENST00000572080.2:c.*438del	ENSP00000459972.2:n.*438del
ENST00000577106.6:c.2300del	ENSP00000458306.2:p.Phe767SerfsTer14
ENST00000302262.8:c.2300del MANE Select	ENSP00000305692.3:p.Phe767SerfsTer14
ENST00000302262.7:c.2300del	ENSP00000305692.3:p.Phe767SerfsTer14
ENST00000390015.7:c.2300del	ENSP00000374665.3:p.Phe767SerfsTer14
ENST00000572080.1:c.719del
ENST00000573556.1:n.253del
NM_000152.3:c.2300del , LRG_673t1:c.2300del	NP_000143.2:p.Phe767SerfsTer14
NM_001079803.1:c.2300del	NP_001073271.1:p.Phe767SerfsTer14
NM_001079804.1:c.2300del	NP_001073272.1:p.Phe767SerfsTer14
XM_005257193.1:c.2300del	XP_005257250.1:p.Phe767SerfsTer14
XM_005257194.3:c.2300del	XP_005257251.1:p.Phe767SerfsTer14
NM_000152.4:c.2300del	NP_000143.2:p.Phe767SerfsTer14
NM_001079803.2:c.2300del	NP_001073271.1:p.Phe767SerfsTer14
NM_001079804.2:c.2300del	NP_001073272.1:p.Phe767SerfsTer14
XM_005257193.2:c.2300del	XP_005257250.1:p.Phe767SerfsTer14
XM_005257194.4:c.2300del	XP_005257251.1:p.Phe767SerfsTer14
NM_000152.5:c.2300del MANE Select	NP_000143.2:p.Phe767SerfsTer14
NM_001079803.3:c.2300del	NP_001073271.1:p.Phe767SerfsTer14
NM_001079804.3:c.2300del	NP_001073272.1:p.Phe767SerfsTer14