Canonical Allele Identifier: CA2242009650

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919828_89919840delinsGTGCCTCGTGGTC , CM000678.2:g.89919828_89919840delinsGTGCCTCGTGGTC	GRCh38
NC_000016.9:g.89986236_89986248delinsGTGCCTCGTGGTC , CM000678.1:g.89986236_89986248delinsGTGCCTCGTGGTC	GRCh37
NC_000016.8:g.88513737_88513749delinsGTGCCTCGTGGTC	NCBI36
NG_012026.1:g.6950_6962delinsGTGCCTCGTGGTC
NG_027810.1:g.2820_2832delinsGTGCCTCGTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.570_582delinsGTGCCTCGTGGTC MANE Select	ENSP00000451605.1:p.Leu190=
ENST00000639847.1:c.570_582delinsGTGCCTCGTGGTC	ENSP00000492011.1:p.Leu190=
ENST00000555147.1:c.570_582delinsGTGCCTCGTGGTC	ENSP00000451605.1:p.Leu190=
ENST00000555427.1:c.570_582delinsGTGCCTCGTGGTC	ENSP00000451760.1:p.Leu190=
ENST00000556922.1:c.570_582delinsGTGCCTCGTGGTC	ENSP00000451560.1:p.Leu190=
NM_002386.3:c.570_582delinsGTGCCTCGTGGTC	NP_002377.4:p.Leu190=
NM_002386.4:c.570_582delinsGTGCCTCGTGGTC MANE Select	NP_002377.4:p.Leu190=