Canonical Allele Identifier: CA2671535558
Gene: MTTP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99622904_99622913del , CM000666.2:g.99622904_99622913del GRCh38
NC_000004.11:g.100544061_100544070del , CM000666.1:g.100544061_100544070del GRCh37
NC_000004.10:g.100763084_100763093del NCBI36
NG_011469.1:g.63822_63831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.*56_*65del MANE Select ENSP00000265517.5:n.*56_*65del
ENST00000457717.6:c.*56_*65del ENSP00000400821.1:n.*56_*65del
ENST00000511045.6:c.*56_*65del ENSP00000427679.2:n.*56_*65del
ENST00000265517.9:c.*56_*65del ENSP00000265517.5:n.*56_*65del
ENST00000457717.5:c.*56_*65del ENSP00000400821.1:n.*56_*65del
ENST00000511045.5:c.*56_*65del ENSP00000427679.1:n.*56_*65del
ENST00000619629.1:c.*1188_*1197del ENSP00000482850.1:n.*1188_*1197del
NM_000253.3:c.*56_*65del NP_000244.2:n.*56_*65del
NM_001300785.1:c.*56_*65del NP_001287714.1:n.*56_*65del
NM_000253.4:c.*56_*65del NP_000244.2:n.*56_*65del
NM_001300785.2:c.*56_*65del NP_001287714.2:n.*56_*65del
NM_001386140.1:c.*56_*65del MANE Select NP_001373069.1:n.*56_*65del