Canonical Allele Identifier: CA2739267010

Gene: MC1R

Linked Data

• ClinVar Variation Id: 2885333
• ClinVar RCV Id: RCV003628931

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919531_89919532delinsGA , CM000678.2:g.89919531_89919532delinsGA	GRCh38
NC_000016.9:g.89985939_89985940delinsGA , CM000678.1:g.89985939_89985940delinsGA	GRCh37
NC_000016.8:g.88513440_88513441delinsGA	NCBI36
NG_012026.1:g.6653_6654delinsGA
NG_027810.1:g.2523_2524delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.273_274delinsGA MANE Select	ENSP00000451605.1:p.Asn91_Val92delinsLysMet
ENST00000639847.1:c.273_274delinsGA	ENSP00000492011.1:p.Asn91_Val92delinsLysMet
ENST00000555147.1:c.273_274delinsGA	ENSP00000451605.1:p.Asn91_Val92delinsLysMet
ENST00000555427.1:c.273_274delinsGA	ENSP00000451760.1:p.Asn91_Val92delinsLysMet
ENST00000556922.1:c.273_274delinsGA	ENSP00000451560.1:p.Asn91_Val92delinsLysMet
NM_002386.3:c.273_274delinsGA	NP_002377.4:p.Asn91_Val92delinsLysMet
NM_002386.4:c.273_274delinsGA MANE Select	NP_002377.4:p.Asn91_Val92delinsLysMet