Canonical Allele Identifier: CA343062

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 38414
• ClinVar RCV Id: RCV000031968 ; RCV000669422
• dbSNP Id: rs36007394
• ExAC: 12:102159899 AG / A
• gnomAD v2: 12-102159899-AG-A
• gnomAD v3: 12-101766121-AG-A
• gnomAD v4: 12-101766121-AG-A
• MyVariant Identifiers: chr12:g.102159901del (hg19) ; chr12:g.102159900del (hg19) ; chr12:g.101766123del (hg38) ; chr12:g.101766122del (hg38)
• PubMed: PMID:16465621 ; PMID:18190596 ; PMID:19617216 ; PMID:19659762 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766123del , CM000674.2:g.101766123del	GRCh38
NC_000012.11:g.102159901del , CM000674.1:g.102159901del	GRCh37
NC_000012.10:g.100684032del	NCBI36
NG_021243.1:g.69746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1581del MANE Select	ENSP00000299314.7:p.Cys528ValfsTer19
ENST00000299314.11:c.1581del	ENSP00000299314.7:p.Cys528ValfsTer19
ENST00000552009.1:n.240del
NM_024312.4:c.1581del	NP_077288.2:p.Cys528ValfsTer19
XM_006719593.2:c.1581del	XP_006719656.1:p.Cys528ValfsTer19
XM_011538731.1:c.1500del	XP_011537033.1:p.Cys501ValfsTer19
XM_006719593.3:c.1581del	XP_006719656.1:p.Cys528ValfsTer19
XM_011538731.2:c.1500del	XP_011537033.1:p.Cys501ValfsTer19
XM_017019961.1:c.1365del	XP_016875450.1:p.Cys456ValfsTer19
XM_017019962.2:c.354del	XP_016875451.1:p.Cys119ValfsTer19
NM_024312.5:c.1581del MANE Select	NP_077288.2:p.Cys528ValfsTer19