Canonical Allele Identifier: CA2242009674

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919866_89919896delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG , CM000678.2:g.89919866_89919896delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	GRCh38
NC_000016.9:g.89986274_89986304delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG , CM000678.1:g.89986274_89986304delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	GRCh37
NC_000016.8:g.88513775_88513805delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	NCBI36
NG_012026.1:g.6988_7018delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG
NG_027810.1:g.2858_2888delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG MANE Select	ENSP00000451605.1:p.Met203=
ENST00000639847.1:c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	ENSP00000492011.1:p.Met203=
ENST00000555147.1:c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	ENSP00000451605.1:p.Met203=
ENST00000555427.1:c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	ENSP00000451760.1:p.Met203=
ENST00000556922.1:c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	ENSP00000451560.1:p.Met203=
NM_002386.3:c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG	NP_002377.4:p.Met203=
NM_002386.4:c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG MANE Select	NP_002377.4:p.Met203=