Canonical Allele Identifier: CA2242009423
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919522_89919523delinsCG , CM000678.2:g.89919522_89919523delinsCG GRCh38
NC_000016.9:g.89985930_89985931delinsCG , CM000678.1:g.89985930_89985931delinsCG GRCh37
NC_000016.8:g.88513431_88513432delinsCG NCBI36
NG_012026.1:g.6644_6645delinsCG
NG_027810.1:g.2514_2515delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.264_265delinsCG MANE Select ENSP00000451605.1:p.Ser88=
ENST00000639847.1:c.264_265delinsCG ENSP00000492011.1:p.Ser88=
ENST00000555147.1:c.264_265delinsCG ENSP00000451605.1:p.Ser88=
ENST00000555427.1:c.264_265delinsCG ENSP00000451760.1:p.Ser88=
ENST00000556922.1:c.264_265delinsCG ENSP00000451560.1:p.Ser88=
NM_002386.3:c.264_265delinsCG NP_002377.4:p.Ser88=
NM_002386.4:c.264_265delinsCG MANE Select NP_002377.4:p.Ser88=