Canonical Allele Identifier: CA2762812169
Gene: MTTP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99600786_99600790del , CM000666.2:g.99600786_99600790del GRCh38
NC_000004.11:g.100521943_100521947del , CM000666.1:g.100521943_100521947del GRCh37
NC_000004.10:g.100740966_100740970del NCBI36
NG_011469.1:g.41704_41708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265517.10:c.1236+53_1236+57del MANE Select ENSP00000265517.5:n.1236+53_1236+57del
ENST00000457717.6:c.1236+53_1236+57del ENSP00000400821.1:n.1236+53_1236+57del
ENST00000511045.6:c.987+53_987+57del ENSP00000427679.2:n.987+53_987+57del
ENST00000265517.9:c.1236+53_1236+57del ENSP00000265517.5:n.1236+53_1236+57del
ENST00000457717.5:c.1236+53_1236+57del ENSP00000400821.1:n.1236+53_1236+57del
ENST00000511045.5:c.1317+53_1317+57del ENSP00000427679.1:n.1317+53_1317+57del
ENST00000619629.1:c.1236+53_1236+57del ENSP00000482850.1:n.1236+53_1236+57del
NM_000253.3:c.1236+53_1236+57del NP_000244.2:n.1236+53_1236+57del
NM_001300785.1:c.1317+53_1317+57del NP_001287714.1:n.1317+53_1317+57del
NM_000253.4:c.1236+53_1236+57del NP_000244.2:n.1236+53_1236+57del
NM_001300785.2:c.987+53_987+57del NP_001287714.2:n.987+53_987+57del
NM_001386140.1:c.1236+53_1236+57del MANE Select NP_001373069.1:n.1236+53_1236+57del