Canonical Allele Identifier: CA630399129
Community Standard Title: NM_005912.3(MC4R):c.835_836del (p.Cys279LeufsTer6)
Gene: MC4R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371520_60371521del , CM000680.2:g.60371520_60371521del GRCh38
NC_000018.9:g.58038753_58038754del , CM000680.1:g.58038753_58038754del GRCh37
NC_000018.8:g.56189733_56189734del NCBI36
NG_016441.1:g.6254_6255del

Transcript Alleles

HGVS Amino-acid Change
NM_005912.3:c.835_836del MANE Select NP_005903.2:p.Cys279LeufsTer6
ENST00000299766.5:c.835_836del MANE Select ENSP00000299766.3:p.Cys279LeufsTer6
NM_005912.2:c.835_836del NP_005903.2:p.Cys279LeufsTer6
ENST00000299766.4:c.835_836del ENSP00000299766.3:p.Cys279LeufsTer6
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