Canonical Allele Identifier: CA2762810701
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99583572_99583578del , CM000666.2:g.99583572_99583578del GRCh38
NC_000004.11:g.100504729_100504735del , CM000666.1:g.100504729_100504735del GRCh37
NC_000004.10:g.100723752_100723758del NCBI36
NG_011469.1:g.24490_24496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.393+55_393+61del MANE Select ENSP00000265517.5:n.393+55_393+61del
ENST00000457717.6:c.393+55_393+61del ENSP00000400821.1:n.393+55_393+61del
ENST00000511045.6:c.144+55_144+61del ENSP00000427679.2:n.144+55_144+61del
ENST00000265517.9:c.393+55_393+61del ENSP00000265517.5:n.393+55_393+61del
ENST00000422897.6:c.448_454del ENSP00000407350.2:p.Leu150ArgfsTer10
ENST00000457717.5:c.393+55_393+61del ENSP00000400821.1:n.393+55_393+61del
ENST00000506883.5:c.423+55_423+61del ENSP00000426755.1:n.423+55_423+61del
ENST00000511045.5:c.474+55_474+61del ENSP00000427679.1:n.474+55_474+61del
ENST00000619629.1:c.393+55_393+61del ENSP00000482850.1:n.393+55_393+61del
NM_000253.3:c.393+55_393+61del NP_000244.2:n.393+55_393+61del
NM_001300785.1:c.474+55_474+61del NP_001287714.1:n.474+55_474+61del
NM_000253.4:c.393+55_393+61del NP_000244.2:n.393+55_393+61del
NM_001300785.2:c.144+55_144+61del NP_001287714.2:n.144+55_144+61del
NM_001386140.1:c.393+55_393+61del MANE Select NP_001373069.1:n.393+55_393+61del