Canonical Allele Identifier: CA2242009727

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919942_89919943delinsGC , CM000678.2:g.89919942_89919943delinsGC	GRCh38
NC_000016.9:g.89986350_89986351delinsGC , CM000678.1:g.89986350_89986351delinsGC	GRCh37
NC_000016.8:g.88513851_88513852delinsGC	NCBI36
NG_012026.1:g.7064_7065delinsGC
NG_027810.1:g.2934_2935delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.684_685delinsGC MANE Select	ENSP00000451605.1:p.Gln228=
ENST00000639847.1:c.684_685delinsGC	ENSP00000492011.1:p.Gln228=
ENST00000555147.1:c.684_685delinsGC	ENSP00000451605.1:p.Gln228=
ENST00000555427.1:c.684_685delinsGC	ENSP00000451760.1:p.Gln228=
ENST00000556922.1:c.684_685delinsGC	ENSP00000451560.1:p.Gln228=
NM_002386.3:c.684_685delinsGC	NP_002377.4:p.Gln228=
NM_002386.4:c.684_685delinsGC MANE Select	NP_002377.4:p.Gln228=