Canonical Allele Identifier: CA2576104034

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919909_89919919del , CM000678.2:g.89919909_89919919del	GRCh38
NC_000016.9:g.89986317_89986327del , CM000678.1:g.89986317_89986327del	GRCh37
NC_000016.8:g.88513818_88513828del	NCBI36
NG_012026.1:g.7031_7041del
NG_027810.1:g.2901_2911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.651_661del MANE Select	ENSP00000451605.1:p.Ala218ArgfsTer17
ENST00000639847.1:c.651_661del	ENSP00000492011.1:p.Ala218ArgfsTer17
ENST00000555147.1:c.651_661del	ENSP00000451605.1:p.Ala218ArgfsTer17
ENST00000555427.1:c.651_661del	ENSP00000451760.1:p.Ala218ArgfsTer17
ENST00000556922.1:c.651_661del	ENSP00000451560.1:p.Ala218ArgfsTer17
NM_002386.3:c.651_661del	NP_002377.4:p.Ala218ArgfsTer17
NM_002386.4:c.651_661del MANE Select	NP_002377.4:p.Ala218ArgfsTer17