Canonical Allele Identifier: CA2242009382

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919452_89919458delinsAGAACCG , CM000678.2:g.89919452_89919458delinsAGAACCG	GRCh38
NC_000016.9:g.89985860_89985866delinsAGAACCG , CM000678.1:g.89985860_89985866delinsAGAACCG	GRCh37
NC_000016.8:g.88513361_88513367delinsAGAACCG	NCBI36
NG_012026.1:g.6574_6580delinsAGAACCG
NG_027810.1:g.2444_2450delinsAGAACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.194_200delinsAGAACCG MANE Select	ENSP00000451605.1:p.Lys65=
ENST00000639847.1:c.194_200delinsAGAACCG	ENSP00000492011.1:p.Lys65=
ENST00000555147.1:c.194_200delinsAGAACCG	ENSP00000451605.1:p.Lys65=
ENST00000555427.1:c.194_200delinsAGAACCG	ENSP00000451760.1:p.Lys65=
ENST00000556922.1:c.194_200delinsAGAACCG	ENSP00000451560.1:p.Lys65=
NM_002386.3:c.194_200delinsAGAACCG	NP_002377.4:p.Lys65=
NM_002386.4:c.194_200delinsAGAACCG MANE Select	NP_002377.4:p.Lys65=