Canonical Allele Identifier: CA2642029302
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371846_60371848del , CM000680.2:g.60371846_60371848del GRCh38
NC_000018.9:g.58039079_58039081del , CM000680.1:g.58039079_58039081del GRCh37
NC_000018.8:g.56190059_56190061del NCBI36
NG_016441.1:g.5926_5928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.507_509del MANE Select ENSP00000299766.3:p.Ile170del
ENST00000299766.4:c.507_509del ENSP00000299766.3:p.Ile170del
NM_005912.2:c.507_509del NP_005903.2:p.Ile170del
NM_005912.3:c.507_509del MANE Select NP_005903.2:p.Ile170del