Canonical Allele Identifier: CA607597966

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2942368
• ClinVar RCV Id: RCV003805582
• dbSNP Id: rs1244017657
• gnomAD v2: 12-102161877-TC-T
• gnomAD v4: 12-101768099-TC-T
• MyVariant Identifiers: chr12:g.102161878del (hg19) ; chr12:g.101768100del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768101del , CM000674.2:g.101768101del	GRCh38
NC_000012.11:g.102161879del , CM000674.1:g.102161879del	GRCh37
NC_000012.10:g.100686010del	NCBI36
NG_021243.1:g.67768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1345del MANE Select	ENSP00000299314.7:p.Asp449MetfsTer?
ENST00000299314.11:c.1345del	ENSP00000299314.7:p.Asp449MetfsTer?
ENST00000549940.5:c.1345del	ENSP00000449150.1:p.Asp449MetfsTer26
ENST00000552009.1:n.4del
NM_024312.4:c.1345del	NP_077288.2:p.Asp449MetfsTer?
XM_006719593.2:c.1345del	XP_006719656.1:p.Asp449MetfsTer?
XM_011538731.1:c.1264del	XP_011537033.1:p.Asp422MetfsTer?
XM_006719593.3:c.1345del	XP_006719656.1:p.Asp449MetfsTer?
XM_011538731.2:c.1264del	XP_011537033.1:p.Asp422MetfsTer?
XM_017019961.1:c.1129del	XP_016875450.1:p.Asp377MetfsTer?
XM_017019962.2:c.118del	XP_016875451.1:p.Asp40MetfsTer?
NM_024312.5:c.1345del MANE Select	NP_077288.2:p.Asp449MetfsTer?