Canonical Allele Identifier: CA2242009711

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919920_89919942delinsTCGCCCGGCTCCACAAGAGGCAG , CM000678.2:g.89919920_89919942delinsTCGCCCGGCTCCACAAGAGGCAG	GRCh38
NC_000016.9:g.89986328_89986350delinsTCGCCCGGCTCCACAAGAGGCAG , CM000678.1:g.89986328_89986350delinsTCGCCCGGCTCCACAAGAGGCAG	GRCh37
NC_000016.8:g.88513829_88513851delinsTCGCCCGGCTCCACAAGAGGCAG	NCBI36
NG_012026.1:g.7042_7064delinsTCGCCCGGCTCCACAAGAGGCAG
NG_027810.1:g.2912_2934delinsTCGCCCGGCTCCACAAGAGGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG MANE Select	ENSP00000451605.1:p.Ile221=
ENST00000639847.1:c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG	ENSP00000492011.1:p.Ile221=
ENST00000555147.1:c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG	ENSP00000451605.1:p.Ile221=
ENST00000555427.1:c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG	ENSP00000451760.1:p.Ile221=
ENST00000556922.1:c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG	ENSP00000451560.1:p.Ile221=
NM_002386.3:c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG	NP_002377.4:p.Ile221=
NM_002386.4:c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG MANE Select	NP_002377.4:p.Ile221=