Canonical Allele Identifier: CA2695227731
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371705_60371707del , CM000680.2:g.60371705_60371707del GRCh38
NC_000018.9:g.58038938_58038940del , CM000680.1:g.58038938_58038940del GRCh37
NC_000018.8:g.56189918_56189920del NCBI36
NG_016441.1:g.6062_6064del

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.643_645del MANE Select ENSP00000299766.3:p.Met215del
ENST00000299766.4:c.643_645del ENSP00000299766.3:p.Met215del
NM_005912.2:c.643_645del NP_005903.2:p.Met215del
NM_005912.3:c.643_645del MANE Select NP_005903.2:p.Met215del