Canonical Allele Identifier: CA2740095170
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 3011315
ClinVar RCV Id: RCV003869978
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919944_89919946dup , CM000678.2:g.89919944_89919946dup GRCh38
NC_000016.9:g.89986352_89986354dup , CM000678.1:g.89986352_89986354dup GRCh37
NC_000016.8:g.88513853_88513855dup NCBI36
NG_012026.1:g.7066_7068dup
NG_027810.1:g.2936_2938dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.686_688dup MANE Select ENSP00000451605.1:p.Arg229_Pro230insArg
ENST00000639847.1:c.686_688dup ENSP00000492011.1:p.Arg229_Pro230insArg
ENST00000555147.1:c.686_688dup ENSP00000451605.1:p.Arg229_Pro230insArg
ENST00000555427.1:c.686_688dup ENSP00000451760.1:p.Arg229_Pro230insArg
ENST00000556922.1:c.686_688dup ENSP00000451560.1:p.Arg229_Pro230insArg
NM_002386.3:c.686_688dup NP_002377.4:p.Arg229_Pro230insArg
NM_002386.4:c.686_688dup MANE Select NP_002377.4:p.Arg229_Pro230insArg
Search 100 bp 5'
Search 100 bp 3'