Canonical Allele Identifier: CA274311

Gene: GAA

Linked Data

• ClinVar Variation Id: 189041
• ClinVar RCV Id: RCV000169433 ; RCV000725812
• dbSNP Id: rs786204646
• MyVariant Identifiers: chr17:g.78082340_78082341delinsC (hg19) ; chr17:g.80108541_80108542delinsC (hg38)
• PubMed: PMID:18425781 ; PMID:18607768 ; PMID:23891399
• ERepo: CA274311/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108541_80108542delinsC , CM000679.2:g.80108541_80108542delinsC	GRCh38
NC_000017.10:g.78082340_78082341delinsC , CM000679.1:g.78082340_78082341delinsC	GRCh37
NC_000017.9:g.75696935_75696936delinsC	NCBI36
NG_009822.1:g.11986_11987delinsC , LRG_673:g.11986_11987delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1128_1129delinsC	ENSP00000460543.2:p.Trp376CysfsTer16
ENST00000572080.2:c.1128_1129delinsC	ENSP00000459972.2:p.Trp376CysfsTer16
ENST00000577106.6:c.1128_1129delinsC	ENSP00000458306.2:p.Trp376CysfsTer16
ENST00000302262.8:c.1128_1129delinsC MANE Select	ENSP00000305692.3:p.Trp376CysfsTer16
ENST00000302262.7:c.1128_1129delinsC	ENSP00000305692.3:p.Trp376CysfsTer16
ENST00000390015.7:c.1128_1129delinsC	ENSP00000374665.3:p.Trp376CysfsTer16
NM_000152.3:c.1128_1129delinsC , LRG_673t1:c.1128_1129delinsC	NP_000143.2:p.Trp376CysfsTer16
NM_001079803.1:c.1128_1129delinsC	NP_001073271.1:p.Trp376CysfsTer16
NM_001079804.1:c.1128_1129delinsC	NP_001073272.1:p.Trp376CysfsTer16
XM_005257193.1:c.1128_1129delinsC	XP_005257250.1:p.Trp376CysfsTer16
XM_005257194.3:c.1128_1129delinsC	XP_005257251.1:p.Trp376CysfsTer16
NM_000152.4:c.1128_1129delinsC	NP_000143.2:p.Trp376CysfsTer16
NM_001079803.2:c.1128_1129delinsC	NP_001073271.1:p.Trp376CysfsTer16
NM_001079804.2:c.1128_1129delinsC	NP_001073272.1:p.Trp376CysfsTer16
XM_005257193.2:c.1128_1129delinsC	XP_005257250.1:p.Trp376CysfsTer16
XM_005257194.4:c.1128_1129delinsC	XP_005257251.1:p.Trp376CysfsTer16
NM_000152.5:c.1128_1129delinsC MANE Select	NP_000143.2:p.Trp376CysfsTer16
NM_001079803.3:c.1128_1129delinsC	NP_001073271.1:p.Trp376CysfsTer16
NM_001079804.3:c.1128_1129delinsC	NP_001073272.1:p.Trp376CysfsTer16