Canonical Allele Identifier: CA919769660
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1555623832
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919785_89919787del , CM000678.2:g.89919785_89919787del GRCh38
NC_000016.9:g.89986193_89986195del , CM000678.1:g.89986193_89986195del GRCh37
NC_000016.8:g.88513694_88513696del NCBI36
NG_012026.1:g.6907_6909del
NG_027810.1:g.2777_2779del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.527_529del MANE Select ENSP00000451605.1:p.Ser176del
ENST00000639847.1:c.527_529del ENSP00000492011.1:p.Ser176del
ENST00000555147.1:c.527_529del ENSP00000451605.1:p.Ser176del
ENST00000555427.1:c.527_529del ENSP00000451760.1:p.Ser176del
ENST00000556922.1:c.527_529del ENSP00000451560.1:p.Ser176del
NM_002386.3:c.527_529del NP_002377.4:p.Ser176del
NM_002386.4:c.527_529del MANE Select NP_002377.4:p.Ser176del
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