Canonical Allele Identifier: CA2576104036
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919931_89919933del , CM000678.2:g.89919931_89919933del GRCh38
NC_000016.9:g.89986339_89986341del , CM000678.1:g.89986339_89986341del GRCh37
NC_000016.8:g.88513840_88513842del NCBI36
NG_012026.1:g.7053_7055del
NG_027810.1:g.2923_2925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.673_675del MANE Select ENSP00000451605.1:p.His225del
ENST00000639847.1:c.673_675del ENSP00000492011.1:p.His225del
ENST00000555147.1:c.673_675del ENSP00000451605.1:p.His225del
ENST00000555427.1:c.673_675del ENSP00000451760.1:p.His225del
ENST00000556922.1:c.673_675del ENSP00000451560.1:p.His225del
NM_002386.3:c.673_675del NP_002377.4:p.His225del
NM_002386.4:c.673_675del MANE Select NP_002377.4:p.His225del