Canonical Allele Identifier: CA220406

Gene: GAA

Linked Data

• ClinVar Variation Id: 4033
• ClinVar RCV Id: RCV000004248 ; RCV000078181
• dbSNP Id: rs386834235
• ExAC: 17:78078909 CT / C
• gnomAD v2: 17-78078909-CT-C
• gnomAD v3: 17-80105110-CT-C
• gnomAD v4: 17-80105110-CT-C
• MyVariant Identifiers: chr17:g.78078910del (hg19) ; chr17:g.78078910delT (hg19) ; chr17:g.78078910_78078911delinsG (hg19) ; chr17:g.80105111del (hg38)
• PubMed: PMID:7881422 ; PMID:7945303 ; PMID:8558570 ; PMID:8990003 ; PMID:9950376 ; PMID:20301438 ; PMID:21228398 ; PMID:22975760 ; PMID:23000108 ; PMID:24158270 ; PMID:24590251 ; PMID:25243733 ; PMID:27142047 ; PMID:27189384
• ERepo: CA220406/MONDO:0009290/010

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.525del	ENSP00000460543.2:p.Glu176ArgfsTer?
ENST00000572080.2:c.525del	ENSP00000459972.2:p.Glu176ArgfsTer?
ENST00000577106.6:c.525del	ENSP00000458306.2:p.Glu176ArgfsTer?
ENST00000302262.8:c.525del MANE Select	ENSP00000305692.3:p.Glu176ArgfsTer?
ENST00000302262.7:c.525del	ENSP00000305692.3:p.Glu176ArgfsTer?
ENST00000390015.7:c.525del	ENSP00000374665.3:p.Glu176ArgfsTer?
ENST00000570803.5:c.525del	ENSP00000460543.1:p.Glu176ArgfsTer?
ENST00000577106.5:c.525del	ENSP00000458306.1:p.Glu176ArgfsTer?
NM_000152.3:c.525del , LRG_673t1:c.525del	NP_000143.2:p.Glu176ArgfsTer?
NM_001079803.1:c.525del	NP_001073271.1:p.Glu176ArgfsTer?
NM_001079804.1:c.525del	NP_001073272.1:p.Glu176ArgfsTer?
XM_005257193.1:c.525del	XP_005257250.1:p.Glu176ArgfsTer?
XM_005257194.3:c.525del	XP_005257251.1:p.Glu176ArgfsTer?
NM_000152.4:c.525del	NP_000143.2:p.Glu176ArgfsTer?
NM_001079803.2:c.525del	NP_001073271.1:p.Glu176ArgfsTer?
NM_001079804.2:c.525del	NP_001073272.1:p.Glu176ArgfsTer?
XM_005257193.2:c.525del	XP_005257250.1:p.Glu176ArgfsTer?
XM_005257194.4:c.525del	XP_005257251.1:p.Glu176ArgfsTer?
NM_000152.5:c.525del MANE Select	NP_000143.2:p.Glu176ArgfsTer?
NM_001079803.3:c.525del	NP_001073271.1:p.Glu176ArgfsTer?
NM_001079804.3:c.525del	NP_001073272.1:p.Glu176ArgfsTer?