Canonical Allele Identifier: CA2762811626
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583518_99583519insACT , CM000666.2:g.99583518_99583519insACT GRCh38
NC_000004.11:g.100504675_100504676insACT , CM000666.1:g.100504675_100504676insACT GRCh37
NC_000004.10:g.100723698_100723699insACT NCBI36
NG_011469.1:g.24436_24437insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.393+1_393+2insACT MANE Select ENSP00000265517.5:n.393+1_393+2insACT
ENST00000457717.6:c.393+1_393+2insACT ENSP00000400821.1:n.393+1_393+2insACT
ENST00000511045.6:c.144+1_144+2insACT ENSP00000427679.2:n.144+1_144+2insACT
ENST00000265517.9:c.393+1_393+2insACT ENSP00000265517.5:n.393+1_393+2insACT
ENST00000422897.6:c.394_395insACT ENSP00000407350.2:p.Val132delinsAspLeu
ENST00000457717.5:c.393+1_393+2insACT ENSP00000400821.1:n.393+1_393+2insACT
ENST00000506883.5:c.423+1_423+2insACT ENSP00000426755.1:n.423+1_423+2insACT
ENST00000511045.5:c.474+1_474+2insACT ENSP00000427679.1:n.474+1_474+2insACT
ENST00000619629.1:c.393+1_393+2insACT ENSP00000482850.1:n.393+1_393+2insACT
NM_000253.3:c.393+1_393+2insACT NP_000244.2:n.393+1_393+2insACT
NM_001300785.1:c.474+1_474+2insACT NP_001287714.1:n.474+1_474+2insACT
NM_000253.4:c.393+1_393+2insACT NP_000244.2:n.393+1_393+2insACT
NM_001300785.2:c.144+1_144+2insACT NP_001287714.2:n.144+1_144+2insACT
NM_001386140.1:c.393+1_393+2insACT MANE Select NP_001373069.1:n.393+1_393+2insACT