Canonical Allele Identifier: CA2741510676

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919676_89919677insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA , CM000678.2:g.89919676_89919677insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	GRCh38
NC_000016.9:g.89986084_89986085insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA , CM000678.1:g.89986084_89986085insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	GRCh37
NC_000016.8:g.88513585_88513586insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	NCBI36
NG_012026.1:g.6798_6799insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA
NG_027810.1:g.2668_2669insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA MANE Select	ENSP00000451605.1:p.Val140delinsAlaValValIleLeuGlyAlaLeuGluVa...
ENST00000639847.1:c.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	ENSP00000492011.1:p.Val140delinsAlaValValIleLeuGlyAlaLeuGluVa...
ENST00000555147.1:c.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	ENSP00000451605.1:p.Val140delinsAlaValValIleLeuGlyAlaLeuGluVa...
ENST00000555427.1:c.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	ENSP00000451760.1:p.Val140delinsAlaValValIleLeuGlyAlaLeuGluVa...
ENST00000556922.1:c.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	ENSP00000451560.1:p.Val140delinsAlaValValIleLeuGlyAlaLeuGluVa...
NM_002386.3:c.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA	NP_002377.4:p.Val140delinsAlaValValIleLeuGlyAlaLeuGluValLeuAr...
NM_002386.4:c.418_419insCCGTCGTCATCCTGGGCGCCCTGGAGGTACTGCGTCCCCAGTTCCCCACCGGCGACAATGGCGCCA MANE Select	NP_002377.4:p.Val140delinsAlaValValIleLeuGlyAlaLeuGluValLeuAr...