Canonical Allele Identifier: CA2812704170
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372219dup , CM000680.2:g.60372219dup GRCh38
NC_000018.9:g.58039452dup , CM000680.1:g.58039452dup GRCh37
NC_000018.8:g.56190432dup NCBI36
NG_016441.1:g.5554dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.135dup MANE Select ENSP00000299766.3:p.Val46CysfsTer4
ENST00000299766.4:c.135dup ENSP00000299766.3:p.Val46CysfsTer4
NM_005912.2:c.135dup NP_005903.2:p.Val46CysfsTer4
NM_005912.3:c.135dup MANE Select NP_005903.2:p.Val46CysfsTer4