Canonical Allele Identifier: CA2570014618
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371704_60371705insTC , CM000680.2:g.60371704_60371705insTC GRCh38
NC_000018.9:g.58038937_58038938insTC , CM000680.1:g.58038937_58038938insTC GRCh37
NC_000018.8:g.56189917_56189918insTC NCBI36
NG_016441.1:g.6064_6065insGA

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.645_646insGA MANE Select ENSP00000299766.3:p.Phe216AspfsTer3
ENST00000299766.4:c.645_646insGA ENSP00000299766.3:p.Phe216AspfsTer3
NM_005912.2:c.645_646insGA NP_005903.2:p.Phe216AspfsTer3
NM_005912.3:c.645_646insGA MANE Select NP_005903.2:p.Phe216AspfsTer3