Canonical Allele Identifier: CA2242009730

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919944_89919945delinsGC , CM000678.2:g.89919944_89919945delinsGC	GRCh38
NC_000016.9:g.89986352_89986353delinsGC , CM000678.1:g.89986352_89986353delinsGC	GRCh37
NC_000016.8:g.88513853_88513854delinsGC	NCBI36
NG_012026.1:g.7066_7067delinsGC
NG_027810.1:g.2936_2937delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.686_687delinsGC MANE Select	ENSP00000451605.1:p.Arg229=
ENST00000639847.1:c.686_687delinsGC	ENSP00000492011.1:p.Arg229=
ENST00000555147.1:c.686_687delinsGC	ENSP00000451605.1:p.Arg229=
ENST00000555427.1:c.686_687delinsGC	ENSP00000451760.1:p.Arg229=
ENST00000556922.1:c.686_687delinsGC	ENSP00000451560.1:p.Arg229=
NM_002386.3:c.686_687delinsGC	NP_002377.4:p.Arg229=
NM_002386.4:c.686_687delinsGC MANE Select	NP_002377.4:p.Arg229=