Canonical Allele Identifier: CA2762812160
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600778_99600781del , CM000666.2:g.99600778_99600781del GRCh38
NC_000004.11:g.100521935_100521938del , CM000666.1:g.100521935_100521938del GRCh37
NC_000004.10:g.100740958_100740961del NCBI36
NG_011469.1:g.41696_41699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1236+45_1236+48del MANE Select ENSP00000265517.5:n.1236+45_1236+48del
ENST00000457717.6:c.1236+45_1236+48del ENSP00000400821.1:n.1236+45_1236+48del
ENST00000511045.6:c.987+45_987+48del ENSP00000427679.2:n.987+45_987+48del
ENST00000265517.9:c.1236+45_1236+48del ENSP00000265517.5:n.1236+45_1236+48del
ENST00000457717.5:c.1236+45_1236+48del ENSP00000400821.1:n.1236+45_1236+48del
ENST00000511045.5:c.1317+45_1317+48del ENSP00000427679.1:n.1317+45_1317+48del
ENST00000619629.1:c.1236+45_1236+48del ENSP00000482850.1:n.1236+45_1236+48del
NM_000253.3:c.1236+45_1236+48del NP_000244.2:n.1236+45_1236+48del
NM_001300785.1:c.1317+45_1317+48del NP_001287714.1:n.1317+45_1317+48del
NM_000253.4:c.1236+45_1236+48del NP_000244.2:n.1236+45_1236+48del
NM_001300785.2:c.987+45_987+48del NP_001287714.2:n.987+45_987+48del
NM_001386140.1:c.1236+45_1236+48del MANE Select NP_001373069.1:n.1236+45_1236+48del