Canonical Allele Identifier: CA2499217351
Gene: MTTP HGNC NCBI

Linked Data

ClinVar Variation Id: 1070986
ClinVar RCV Id: RCV001383325
dbSNP Id: rs2110212658

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583414del , CM000666.2:g.99583414del GRCh38
NC_000004.11:g.100504571del , CM000666.1:g.100504571del GRCh37
NC_000004.10:g.100723594del NCBI36
NG_011469.1:g.24332del

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.290del MANE Select ENSP00000265517.5:p.Gly97GlufsTer14
ENST00000457717.6:c.290del ENSP00000400821.1:p.Gly97GlufsTer14
ENST00000505094.6:c.41del ENSP00000422782.2:p.Gly14GlufsTer?
ENST00000511045.6:c.41del ENSP00000427679.2:p.Gly14GlufsTer14
ENST00000265517.9:c.290del ENSP00000265517.5:p.Gly97GlufsTer14
ENST00000422897.6:c.290del ENSP00000407350.2:p.Gly97GlufsTer14
ENST00000457717.5:c.290del ENSP00000400821.1:p.Gly97GlufsTer14
ENST00000505094.5:c.*380del ENSP00000422782.1:n.*380del
ENST00000506883.5:c.320del ENSP00000426755.1:p.Gly107GlufsTer14
ENST00000511045.5:c.371del ENSP00000427679.1:p.Gly124GlufsTer14
ENST00000513404.5:c.*353del ENSP00000424972.1:n.*353del
ENST00000515141.5:c.*353del ENSP00000425642.1:n.*353del
ENST00000619629.1:c.290del ENSP00000482850.1:p.Gly97GlufsTer14
NM_000253.3:c.290del NP_000244.2:p.Gly97GlufsTer14
NM_001300785.1:c.371del NP_001287714.1:p.Gly124GlufsTer14
NM_000253.4:c.290del NP_000244.2:p.Gly97GlufsTer14
NM_001300785.2:c.41del NP_001287714.2:p.Gly14GlufsTer14
NM_001386140.1:c.290del MANE Select NP_001373069.1:p.Gly97GlufsTer14