Canonical Allele Identifier: CA2576104033
Gene: MC1R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919905dup , CM000678.2:g.89919905dup GRCh38
NC_000016.9:g.89986313dup , CM000678.1:g.89986313dup GRCh37
NC_000016.8:g.88513814dup NCBI36
NG_012026.1:g.7027dup
NG_027810.1:g.2897dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.647dup MANE Select ENSP00000451605.1:p.His217AlafsTer22
ENST00000639847.1:c.647dup ENSP00000492011.1:p.His217AlafsTer22
ENST00000555147.1:c.647dup ENSP00000451605.1:p.His217AlafsTer22
ENST00000555427.1:c.647dup ENSP00000451760.1:p.His217AlafsTer22
ENST00000556922.1:c.647dup ENSP00000451560.1:p.His217AlafsTer22
NM_002386.3:c.647dup NP_002377.4:p.His217AlafsTer22
NM_002386.4:c.647dup MANE Select NP_002377.4:p.His217AlafsTer22
Search 100 bp 5'
Search 100 bp 3'