Canonical Allele Identifier: CA2242009752

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919984_89919986delinsCCT , CM000678.2:g.89919984_89919986delinsCCT	GRCh38
NC_000016.9:g.89986392_89986394delinsCCT , CM000678.1:g.89986392_89986394delinsCCT	GRCh37
NC_000016.8:g.88513893_88513895delinsCCT	NCBI36
NG_012026.1:g.7106_7108delinsCCT
NG_027810.1:g.2976_2978delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.726_728delinsCCT MANE Select	ENSP00000451605.1:p.Thr242=
ENST00000639847.1:c.726_728delinsCCT	ENSP00000492011.1:p.Thr242=
ENST00000555147.1:c.726_728delinsCCT	ENSP00000451605.1:p.Thr242=
ENST00000555427.1:c.726_728delinsCCT	ENSP00000451760.1:p.Thr242=
ENST00000556922.1:c.726_728delinsCCT	ENSP00000451560.1:p.Thr242=
NM_002386.3:c.726_728delinsCCT	NP_002377.4:p.Thr242=
NM_002386.4:c.726_728delinsCCT MANE Select	NP_002377.4:p.Thr242=