Canonical Allele Identifier: CA645520134
Gene: MTTP HGNC NCBI

Linked Data

COSMIC: COSM370875

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622769_99622770delinsTT , CM000666.2:g.99622769_99622770delinsTT GRCh38
NC_000004.11:g.100543926_100543927delinsTT , CM000666.1:g.100543926_100543927delinsTT GRCh37
NC_000004.10:g.100762949_100762950delinsTT NCBI36
NG_011469.1:g.63687_63688delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000265517.10:c.2606_2607delinsTT MANE Select ENSP00000265517.5:p.Pro869Leu
ENST00000457717.6:c.2606_2607delinsTT ENSP00000400821.1:p.Pro869Leu
ENST00000511045.6:c.2357_2358delinsTT ENSP00000427679.2:p.Pro786Leu
ENST00000265517.9:c.2606_2607delinsTT ENSP00000265517.5:p.Pro869Leu
ENST00000457717.5:c.2606_2607delinsTT ENSP00000400821.1:p.Pro869Leu
ENST00000511045.5:c.2687_2688delinsTT ENSP00000427679.1:p.Pro896Leu
ENST00000619629.1:c.*1053_*1054delinsTT ENSP00000482850.1:n.*1053_*1054delinsTT
NM_000253.3:c.2606_2607delinsTT NP_000244.2:p.Pro869Leu
NM_001300785.1:c.2687_2688delinsTT NP_001287714.1:p.Pro896Leu
NM_000253.4:c.2606_2607delinsTT NP_000244.2:p.Pro869Leu
NM_001300785.2:c.2357_2358delinsTT NP_001287714.2:p.Pro786Leu
NM_001386140.1:c.2606_2607delinsTT MANE Select NP_001373069.1:p.Pro869Leu