Canonical Allele Identifier: CA3022307
Community Standard Title: NM_001386140.1(MTTP):c.2212del (p.Ser738LeufsTer10)
Gene: MTTP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99613135del , CM000666.2:g.99613135del GRCh38
NC_000004.11:g.100534292del , CM000666.1:g.100534292del GRCh37
NC_000004.10:g.100753315del NCBI36
NG_011469.1:g.54053del

Transcript Alleles

HGVS Amino-acid Change
NM_001386140.1:c.2212del MANE Select NP_001373069.1:p.Ser738LeufsTer10
ENST00000265517.10:c.2212del MANE Select ENSP00000265517.5:p.Ser738LeufsTer10
NM_000253.3:c.2212del NP_000244.2:p.Ser738LeufsTer10
NM_000253.4:c.2212del NP_000244.2:p.Ser738LeufsTer10
NM_001300785.1:c.2293del NP_001287714.1:p.Ser765LeufsTer10
NM_001300785.2:c.1963del NP_001287714.2:p.Ser655LeufsTer10
ENST00000265517.9:c.2212del ENSP00000265517.5:p.Ser738LeufsTer10
ENST00000457717.5:c.2212del ENSP00000400821.1:p.Ser738LeufsTer10
ENST00000457717.6:c.2212del ENSP00000400821.1:p.Ser738LeufsTer10
ENST00000511045.5:c.2293del ENSP00000427679.1:p.Ser765LeufsTer10
ENST00000511045.6:c.1963del ENSP00000427679.2:p.Ser655LeufsTer10
ENST00000619629.1:c.*659del ENSP00000482850.1:n.*659del
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