Canonical Allele Identifier: CA2812704150
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371548del , CM000680.2:g.60371548del GRCh38
NC_000018.9:g.58038781del , CM000680.1:g.58038781del GRCh37
NC_000018.8:g.56189761del NCBI36
NG_016441.1:g.6221del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.802del MANE Select ENSP00000299766.3:p.Tyr268ThrfsTer23
ENST00000299766.4:c.802del ENSP00000299766.3:p.Tyr268ThrfsTer23
NM_005912.2:c.802del NP_005903.2:p.Tyr268ThrfsTer23
NM_005912.3:c.802del MANE Select NP_005903.2:p.Tyr268ThrfsTer23