Canonical Allele Identifier: CA2543124849
Gene: MC4R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371702del , CM000680.2:g.60371702del GRCh38
NC_000018.9:g.58038935del , CM000680.1:g.58038935del GRCh37
NC_000018.8:g.56189915del NCBI36
NG_016441.1:g.6068del

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.649del MANE Select ENSP00000299766.3:p.Leu217Ter
ENST00000299766.4:c.649del ENSP00000299766.3:p.Leu217Ter
NM_005912.2:c.649del NP_005903.2:p.Leu217Ter
NM_005912.3:c.649del MANE Select NP_005903.2:p.Leu217Ter
Search 100 bp 5'
Search 100 bp 3'