Canonical Allele Identifier: CA2242009607
Gene: MC1R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919774_89919777delinsTGTC , CM000678.2:g.89919774_89919777delinsTGTC GRCh38
NC_000016.9:g.89986182_89986185delinsTGTC , CM000678.1:g.89986182_89986185delinsTGTC GRCh37
NC_000016.8:g.88513683_88513686delinsTGTC NCBI36
NG_012026.1:g.6896_6899delinsTGTC
NG_027810.1:g.2766_2769delinsTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.516_519delinsTGTC MANE Select ENSP00000451605.1:p.Ser172=
ENST00000639847.1:c.516_519delinsTGTC ENSP00000492011.1:p.Ser172=
ENST00000555147.1:c.516_519delinsTGTC ENSP00000451605.1:p.Ser172=
ENST00000555427.1:c.516_519delinsTGTC ENSP00000451760.1:p.Ser172=
ENST00000556922.1:c.516_519delinsTGTC ENSP00000451560.1:p.Ser172=
NM_002386.3:c.516_519delinsTGTC NP_002377.4:p.Ser172=
NM_002386.4:c.516_519delinsTGTC MANE Select NP_002377.4:p.Ser172=
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