Canonical Allele Identifier: CA2242009540
Gene: MC1R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919694_89919697delinsATCT , CM000678.2:g.89919694_89919697delinsATCT GRCh38
NC_000016.9:g.89986102_89986105delinsATCT , CM000678.1:g.89986102_89986105delinsATCT GRCh37
NC_000016.8:g.88513603_88513606delinsATCT NCBI36
NG_012026.1:g.6816_6819delinsATCT
NG_027810.1:g.2686_2689delinsATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.436_439delinsATCT MANE Select ENSP00000451605.1:p.Ile146=
ENST00000639847.1:c.436_439delinsATCT ENSP00000492011.1:p.Ile146=
ENST00000555147.1:c.436_439delinsATCT ENSP00000451605.1:p.Ile146=
ENST00000555427.1:c.436_439delinsATCT ENSP00000451760.1:p.Ile146=
ENST00000556922.1:c.436_439delinsATCT ENSP00000451560.1:p.Ile146=
NM_002386.3:c.436_439delinsATCT NP_002377.4:p.Ile146=
NM_002386.4:c.436_439delinsATCT MANE Select NP_002377.4:p.Ile146=
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