Canonical Allele Identifier: CA2242009296

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAA , CM000678.2:g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAA	GRCh38
NC_000016.9:g.89985731_89985752delinsCCCAGCTGGGGCTGGCTGCCAA , CM000678.1:g.89985731_89985752delinsCCCAGCTGGGGCTGGCTGCCAA	GRCh37
NC_000016.8:g.88513232_88513253delinsCCCAGCTGGGGCTGGCTGCCAA	NCBI36
NG_012026.1:g.6445_6466delinsCCCAGCTGGGGCTGGCTGCCAA
NG_027810.1:g.2315_2336delinsCCCAGCTGGGGCTGGCTGCCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA MANE Select	ENSP00000451605.1:p.Pro22=
ENST00000639847.1:c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA	ENSP00000492011.1:p.Pro22=
ENST00000555147.1:c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA	ENSP00000451605.1:p.Pro22=
ENST00000555427.1:c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA	ENSP00000451760.1:p.Pro22=
ENST00000556922.1:c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA	ENSP00000451560.1:p.Pro22=
NM_002386.3:c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA	NP_002377.4:p.Pro22=
NM_002386.4:c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA MANE Select	NP_002377.4:p.Pro22=