Canonical Allele Identifier: CA2576516485
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371477del , CM000680.2:g.60371477del GRCh38
NC_000018.9:g.58038710del , CM000680.1:g.58038710del GRCh37
NC_000018.8:g.56189690del NCBI36
NG_016441.1:g.6292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.873del MANE Select ENSP00000299766.3:p.Met292CysfsTer9
ENST00000299766.4:c.873del ENSP00000299766.3:p.Met292CysfsTer9
NM_005912.2:c.873del NP_005903.2:p.Met292CysfsTer9
NM_005912.3:c.873del MANE Select NP_005903.2:p.Met292CysfsTer9