Canonical Allele Identifier: CA2695227733
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371746_60371757del , CM000680.2:g.60371746_60371757del GRCh38
NC_000018.9:g.58038979_58038990del , CM000680.1:g.58038979_58038990del GRCh37
NC_000018.8:g.56189959_56189970del NCBI36
NG_016441.1:g.6020_6031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.601_612del MANE Select ENSP00000299766.3:p.Phe201_Met204del
ENST00000299766.4:c.601_612del ENSP00000299766.3:p.Phe201_Met204del
NM_005912.2:c.601_612del NP_005903.2:p.Phe201_Met204del
NM_005912.3:c.601_612del MANE Select NP_005903.2:p.Phe201_Met204del