Canonical Allele Identifier: CA628018663

Gene: GAA

Linked Data

• ClinVar Variation Id: 526535
• ClinVar RCV Id: RCV000631080
• dbSNP Id: rs1278892703
• gnomAD v2: 17-78078475-CCTA-C
• gnomAD v3: 17-80104676-CCTA-C
• gnomAD v4: 17-80104676-CCTA-C
• MyVariant Identifiers: chr17:g.78078478_78078480del (hg19) ; chr17:g.78078476_78078478del (hg19) ; chr17:g.80104679_80104681del (hg38) ; chr17:g.80104677_80104679del (hg38)
• ERepo: CA628018663/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104679_80104681del , CM000679.2:g.80104679_80104681del	GRCh38
NC_000017.10:g.78078478_78078480del , CM000679.1:g.78078478_78078480del	GRCh37
NC_000017.9:g.75693073_75693075del	NCBI36
NG_009822.1:g.8124_8126del , LRG_673:g.8124_8126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.93_95del	ENSP00000460543.2:p.Leu32del
ENST00000572080.2:c.93_95del	ENSP00000459972.2:p.Leu32del
ENST00000577106.6:c.93_95del	ENSP00000458306.2:p.Leu32del
ENST00000302262.8:c.93_95del MANE Select	ENSP00000305692.3:p.Leu32del
ENST00000302262.7:c.93_95del	ENSP00000305692.3:p.Leu32del
ENST00000390015.7:c.93_95del	ENSP00000374665.3:p.Leu32del
ENST00000570803.5:c.93_95del	ENSP00000460543.1:p.Leu32del
ENST00000577106.5:c.93_95del	ENSP00000458306.1:p.Leu32del
NM_000152.3:c.93_95del , LRG_673t1:c.93_95del	NP_000143.2:p.Leu32del
NM_001079803.1:c.93_95del	NP_001073271.1:p.Leu32del
NM_001079804.1:c.93_95del	NP_001073272.1:p.Leu32del
XM_005257193.1:c.93_95del	XP_005257250.1:p.Leu32del
XM_005257194.3:c.93_95del	XP_005257251.1:p.Leu32del
NM_000152.4:c.93_95del	NP_000143.2:p.Leu32del
NM_001079803.2:c.93_95del	NP_001073271.1:p.Leu32del
NM_001079804.2:c.93_95del	NP_001073272.1:p.Leu32del
XM_005257193.2:c.93_95del	XP_005257250.1:p.Leu32del
XM_005257194.4:c.93_95del	XP_005257251.1:p.Leu32del
NM_000152.5:c.93_95del MANE Select	NP_000143.2:p.Leu32del
NM_001079803.3:c.93_95del	NP_001073271.1:p.Leu32del
NM_001079804.3:c.93_95del	NP_001073272.1:p.Leu32del