Canonical Allele Identifier: CA2242009441

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919550_89919553delinsATCC , CM000678.2:g.89919550_89919553delinsATCC	GRCh38
NC_000016.9:g.89985958_89985961delinsATCC , CM000678.1:g.89985958_89985961delinsATCC	GRCh37
NC_000016.8:g.88513459_88513462delinsATCC	NCBI36
NG_012026.1:g.6672_6675delinsATCC
NG_027810.1:g.2542_2545delinsATCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.292_295delinsATCC MANE Select	ENSP00000451605.1:p.Ile98=
ENST00000639847.1:c.292_295delinsATCC	ENSP00000492011.1:p.Ile98=
ENST00000555147.1:c.292_295delinsATCC	ENSP00000451605.1:p.Ile98=
ENST00000555427.1:c.292_295delinsATCC	ENSP00000451760.1:p.Ile98=
ENST00000556922.1:c.292_295delinsATCC	ENSP00000451560.1:p.Ile98=
NM_002386.3:c.292_295delinsATCC	NP_002377.4:p.Ile98=
NM_002386.4:c.292_295delinsATCC MANE Select	NP_002377.4:p.Ile98=