Canonical Allele Identifier: CA274328

Gene: GAA

Linked Data

• ClinVar Variation Id: 189057
• ClinVar RCV Id: RCV000169454
• dbSNP Id: rs767882689
• ExAC: 17:78078909 CTG / C
• gnomAD v2: 17-78078909-CTG-C
• gnomAD v4: 17-80105110-CTG-C
• MyVariant Identifiers: chr17:g.78078910_78078911del (hg19) ; chr17:g.80105111_80105112del (hg38)
• PubMed: PMID:22252923 ; PMID:23825616
• ERepo: CA274328/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105111_80105112del , CM000679.2:g.80105111_80105112del	GRCh38
NC_000017.10:g.78078910_78078911del , CM000679.1:g.78078910_78078911del	GRCh37
NC_000017.9:g.75693505_75693506del	NCBI36
NG_009822.1:g.8556_8557del , LRG_673:g.8556_8557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.525_526del	ENSP00000460543.2:p.Asn177ProfsTer11
ENST00000572080.2:c.525_526del	ENSP00000459972.2:p.Asn177ProfsTer11
ENST00000577106.6:c.525_526del	ENSP00000458306.2:p.Asn177ProfsTer11
ENST00000302262.8:c.525_526del MANE Select	ENSP00000305692.3:p.Asn177ProfsTer11
ENST00000302262.7:c.525_526del	ENSP00000305692.3:p.Asn177ProfsTer11
ENST00000390015.7:c.525_526del	ENSP00000374665.3:p.Asn177ProfsTer11
ENST00000570803.5:c.525_526del	ENSP00000460543.1:p.Asn177ProfsTer11
ENST00000577106.5:c.525_526del	ENSP00000458306.1:p.Asn177ProfsTer11
NM_000152.3:c.525_526del , LRG_673t1:c.525_526del	NP_000143.2:p.Asn177ProfsTer11
NM_001079803.1:c.525_526del	NP_001073271.1:p.Asn177ProfsTer11
NM_001079804.1:c.525_526del	NP_001073272.1:p.Asn177ProfsTer11
XM_005257193.1:c.525_526del	XP_005257250.1:p.Asn177ProfsTer11
XM_005257194.3:c.525_526del	XP_005257251.1:p.Asn177ProfsTer11
NM_000152.4:c.525_526del	NP_000143.2:p.Asn177ProfsTer11
NM_001079803.2:c.525_526del	NP_001073271.1:p.Asn177ProfsTer11
NM_001079804.2:c.525_526del	NP_001073272.1:p.Asn177ProfsTer11
XM_005257193.2:c.525_526del	XP_005257250.1:p.Asn177ProfsTer11
XM_005257194.4:c.525_526del	XP_005257251.1:p.Asn177ProfsTer11
NM_000152.5:c.525_526del MANE Select	NP_000143.2:p.Asn177ProfsTer11
NM_001079803.3:c.525_526del	NP_001073271.1:p.Asn177ProfsTer11
NM_001079804.3:c.525_526del	NP_001073272.1:p.Asn177ProfsTer11