Canonical Allele Identifier: CA2762812203
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600815_99600816insACT , CM000666.2:g.99600815_99600816insACT GRCh38
NC_000004.11:g.100521972_100521973insACT , CM000666.1:g.100521972_100521973insACT GRCh37
NC_000004.10:g.100740995_100740996insACT NCBI36
NG_011469.1:g.41733_41734insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1236+82_1236+83insACT MANE Select ENSP00000265517.5:n.1236+82_1236+83insACT
ENST00000457717.6:c.1236+82_1236+83insACT ENSP00000400821.1:n.1236+82_1236+83insACT
ENST00000511045.6:c.987+82_987+83insACT ENSP00000427679.2:n.987+82_987+83insACT
ENST00000265517.9:c.1236+82_1236+83insACT ENSP00000265517.5:n.1236+82_1236+83insACT
ENST00000457717.5:c.1236+82_1236+83insACT ENSP00000400821.1:n.1236+82_1236+83insACT
ENST00000511045.5:c.1317+82_1317+83insACT ENSP00000427679.1:n.1317+82_1317+83insACT
ENST00000619629.1:c.1236+82_1236+83insACT ENSP00000482850.1:n.1236+82_1236+83insACT
NM_000253.3:c.1236+82_1236+83insACT NP_000244.2:n.1236+82_1236+83insACT
NM_001300785.1:c.1317+82_1317+83insACT NP_001287714.1:n.1317+82_1317+83insACT
NM_000253.4:c.1236+82_1236+83insACT NP_000244.2:n.1236+82_1236+83insACT
NM_001300785.2:c.987+82_987+83insACT NP_001287714.2:n.987+82_987+83insACT
NM_001386140.1:c.1236+82_1236+83insACT MANE Select NP_001373069.1:n.1236+82_1236+83insACT