Canonical Allele Identifier: CA8814826

Gene: GAA

Linked Data

• ClinVar Variation Id: 282842
• ClinVar RCV Id: RCV000291526 ; RCV000790707
• dbSNP Id: rs761317813
• ExAC: 17:78078636 T / TC
• gnomAD v2: 17-78078636-T-TC
• gnomAD v3: 17-80104837-T-TC
• gnomAD v4: 17-80104837-T-TC
• COSMIC: COSM1387003
• MyVariant Identifiers: chr17:g.78078643dupC (hg19) ; chr17:g.78078637_78078638insC (hg19) ; chr17:g.78078636_78078637insC (hg19) ; chr17:g.80104844dupC (hg38) ; chr17:g.80104837_80104838insC (hg38)
• ERepo: CA8814826/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104844dup , CM000679.2:g.80104844dup	GRCh38
NC_000017.10:g.78078643dup , CM000679.1:g.78078643dup	GRCh37
NC_000017.9:g.75693238dup	NCBI36
NG_009822.1:g.8289dup , LRG_673:g.8289dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.258dup	ENSP00000460543.2:p.Asn87GlnfsTer9
ENST00000572080.2:c.258dup	ENSP00000459972.2:p.Asn87GlnfsTer9
ENST00000577106.6:c.258dup	ENSP00000458306.2:p.Asn87GlnfsTer9
ENST00000302262.8:c.258dup MANE Select	ENSP00000305692.3:p.Asn87GlnfsTer9
ENST00000302262.7:c.258dup	ENSP00000305692.3:p.Asn87GlnfsTer9
ENST00000390015.7:c.258dup	ENSP00000374665.3:p.Asn87GlnfsTer9
ENST00000570803.5:c.258dup	ENSP00000460543.1:p.Asn87GlnfsTer9
ENST00000577106.5:c.258dup	ENSP00000458306.1:p.Asn87GlnfsTer9
NM_000152.3:c.258dup , LRG_673t1:c.258dup	NP_000143.2:p.Asn87GlnfsTer9
NM_001079803.1:c.258dup	NP_001073271.1:p.Asn87GlnfsTer9
NM_001079804.1:c.258dup	NP_001073272.1:p.Asn87GlnfsTer9
XM_005257193.1:c.258dup	XP_005257250.1:p.Asn87GlnfsTer9
XM_005257194.3:c.258dup	XP_005257251.1:p.Asn87GlnfsTer9
NM_000152.4:c.258dup	NP_000143.2:p.Asn87GlnfsTer9
NM_001079803.2:c.258dup	NP_001073271.1:p.Asn87GlnfsTer9
NM_001079804.2:c.258dup	NP_001073272.1:p.Asn87GlnfsTer9
XM_005257193.2:c.258dup	XP_005257250.1:p.Asn87GlnfsTer9
XM_005257194.4:c.258dup	XP_005257251.1:p.Asn87GlnfsTer9
NM_000152.5:c.258dup MANE Select	NP_000143.2:p.Asn87GlnfsTer9
NM_001079803.3:c.258dup	NP_001073271.1:p.Asn87GlnfsTer9
NM_001079804.3:c.258dup	NP_001073272.1:p.Asn87GlnfsTer9