Canonical Allele Identifier: CA343393

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39067
• ClinVar RCV Id: RCV000032332
• dbSNP Id: rs281865011
• gnomAD v4: 12-101760046-TA-T
• MyVariant Identifiers: chr12:g.102153825del (hg19) ; chr12:g.101760047del (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760047del , CM000674.2:g.101760047del	GRCh38
NC_000012.11:g.102153825del , CM000674.1:g.102153825del	GRCh37
NC_000012.10:g.100677956del	NCBI36
NG_021243.1:g.75821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3232del MANE Select	ENSP00000299314.7:p.Tyr1078ThrfsTer13
ENST00000299314.11:c.3232del	ENSP00000299314.7:p.Tyr1078ThrfsTer13
ENST00000549194.1:n.98del
ENST00000550718.1:c.44del
NM_024312.4:c.3232del	NP_077288.2:p.Tyr1078ThrfsTer13
XM_006719593.2:c.3232del	XP_006719656.1:p.Tyr1078ThrfsTer13
XM_011538731.1:c.3151del	XP_011537033.1:p.Tyr1051ThrfsTer13
XM_006719593.3:c.3232del	XP_006719656.1:p.Tyr1078ThrfsTer13
XM_011538731.2:c.3151del	XP_011537033.1:p.Tyr1051ThrfsTer13
XM_017019961.1:c.3016del	XP_016875450.1:p.Tyr1006ThrfsTer13
XM_017019962.2:c.2005del	XP_016875451.1:p.Tyr669ThrfsTer13
NM_024312.5:c.3232del MANE Select	NP_077288.2:p.Tyr1078ThrfsTer13