Canonical Allele Identifier: CA553568365
Community Standard Title: NM_001386140.1(MTTP):c.141del (p.Gly49GlufsTer?)
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99581984del , CM000666.2:g.99581984del GRCh38
NC_000004.11:g.100503141del , CM000666.1:g.100503141del GRCh37
NC_000004.10:g.100722164del NCBI36
NG_011469.1:g.22902del

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.141del MANE Select NP_001373069.1:p.Gly49GlufsTer?
ENST00000265517.10:c.141del MANE Select ENSP00000265517.5:p.Gly49GlufsTer?
NM_000253.3:c.141del NP_000244.2:p.Gly49GlufsTer?
NM_000253.4:c.141del NP_000244.2:p.Gly49GlufsTer?
NM_001300785.1:c.222del NP_001287714.1:p.Gly76GlufsTer?
NM_001300785.2:c.-109del NP_001287714.2:n.-109del
ENST00000265517.9:c.141del ENSP00000265517.5:p.Gly49GlufsTer?
ENST00000422897.6:c.141del ENSP00000407350.2:p.Gly49GlufsTer?
ENST00000457717.5:c.141del ENSP00000400821.1:p.Gly49GlufsTer?
ENST00000457717.6:c.141del ENSP00000400821.1:p.Gly49GlufsTer?
ENST00000505094.5:c.*231del ENSP00000422782.1:n.*231del
ENST00000505094.6:c.-109del ENSP00000422782.2:n.-109del
ENST00000505142.5:c.*331del ENSP00000425987.1:n.*331del
ENST00000506883.5:c.171del ENSP00000426755.1:p.Gly59GlufsTer?
ENST00000511045.5:c.222del ENSP00000427679.1:p.Gly76GlufsTer?
ENST00000511045.6:c.-109del ENSP00000427679.2:n.-109del
ENST00000513404.5:c.*204del ENSP00000424972.1:n.*204del
ENST00000515141.5:c.*204del ENSP00000425642.1:n.*204del
ENST00000619629.1:c.141del ENSP00000482850.1:p.Gly49GlufsTer?