Canonical Allele Identifier: CA2242009694

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919892_89919911delinsGCCCGGGCCTGCCAGCACGC , CM000678.2:g.89919892_89919911delinsGCCCGGGCCTGCCAGCACGC	GRCh38
NC_000016.9:g.89986300_89986319delinsGCCCGGGCCTGCCAGCACGC , CM000678.1:g.89986300_89986319delinsGCCCGGGCCTGCCAGCACGC	GRCh37
NC_000016.8:g.88513801_88513820delinsGCCCGGGCCTGCCAGCACGC	NCBI36
NG_012026.1:g.7014_7033delinsGCCCGGGCCTGCCAGCACGC
NG_027810.1:g.2884_2903delinsGCCCGGGCCTGCCAGCACGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.634_653delinsGCCCGGGCCTGCCAGCACGC MANE Select	ENSP00000451605.1:p.Ala212=
ENST00000639847.1:c.634_653delinsGCCCGGGCCTGCCAGCACGC	ENSP00000492011.1:p.Ala212=
ENST00000555147.1:c.634_653delinsGCCCGGGCCTGCCAGCACGC	ENSP00000451605.1:p.Ala212=
ENST00000555427.1:c.634_653delinsGCCCGGGCCTGCCAGCACGC	ENSP00000451760.1:p.Ala212=
ENST00000556922.1:c.634_653delinsGCCCGGGCCTGCCAGCACGC	ENSP00000451560.1:p.Ala212=
NM_002386.3:c.634_653delinsGCCCGGGCCTGCCAGCACGC	NP_002377.4:p.Ala212=
NM_002386.4:c.634_653delinsGCCCGGGCCTGCCAGCACGC MANE Select	NP_002377.4:p.Ala212=