Canonical Allele Identifier: CA2307358973
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371474_60371475delinsCA , CM000680.2:g.60371474_60371475delinsCA GRCh38
NC_000018.9:g.58038707_58038708delinsCA , CM000680.1:g.58038707_58038708delinsCA GRCh37
NC_000018.8:g.56189687_56189688delinsCA NCBI36
NG_016441.1:g.6294_6295delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.875_876delinsTG MANE Select ENSP00000299766.3:p.Met292=
ENST00000299766.4:c.875_876delinsTG ENSP00000299766.3:p.Met292=
NM_005912.2:c.875_876delinsTG NP_005903.2:p.Met292=
NM_005912.3:c.875_876delinsTG MANE Select NP_005903.2:p.Met292=