Canonical Allele Identifier: CA2762812242
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600880_99600881insAGT , CM000666.2:g.99600880_99600881insAGT GRCh38
NC_000004.11:g.100522037_100522038insAGT , CM000666.1:g.100522037_100522038insAGT GRCh37
NC_000004.10:g.100741060_100741061insAGT NCBI36
NG_011469.1:g.41798_41799insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1236+147_1236+148insAGT MANE Select ENSP00000265517.5:n.1236+147_1236+148insAGT
ENST00000457717.6:c.1236+147_1236+148insAGT ENSP00000400821.1:n.1236+147_1236+148insAGT
ENST00000511045.6:c.987+147_987+148insAGT ENSP00000427679.2:n.987+147_987+148insAGT
ENST00000265517.9:c.1236+147_1236+148insAGT ENSP00000265517.5:n.1236+147_1236+148insAGT
ENST00000457717.5:c.1236+147_1236+148insAGT ENSP00000400821.1:n.1236+147_1236+148insAGT
ENST00000511045.5:c.1317+147_1317+148insAGT ENSP00000427679.1:n.1317+147_1317+148insAGT
ENST00000619629.1:c.1236+147_1236+148insAGT ENSP00000482850.1:n.1236+147_1236+148insAGT
NM_000253.3:c.1236+147_1236+148insAGT NP_000244.2:n.1236+147_1236+148insAGT
NM_001300785.1:c.1317+147_1317+148insAGT NP_001287714.1:n.1317+147_1317+148insAGT
NM_000253.4:c.1236+147_1236+148insAGT NP_000244.2:n.1236+147_1236+148insAGT
NM_001300785.2:c.987+147_987+148insAGT NP_001287714.2:n.987+147_987+148insAGT
NM_001386140.1:c.1236+147_1236+148insAGT MANE Select NP_001373069.1:n.1236+147_1236+148insAGT