Canonical Allele Identifier: CA912996820
Gene: MC1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89986341_89986342insA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919935dup , CM000678.2:g.89919935dup GRCh38
NC_000016.9:g.89986343dup , CM000678.1:g.89986343dup GRCh37
NC_000016.8:g.88513844dup NCBI36
NG_012026.1:g.7057dup
NG_027810.1:g.2927dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.677dup MANE Select ENSP00000451605.1:p.Arg227GlufsTer12
ENST00000639847.1:c.677dup ENSP00000492011.1:p.Arg227GlufsTer12
ENST00000555147.1:c.677dup ENSP00000451605.1:p.Arg227GlufsTer12
ENST00000555427.1:c.677dup ENSP00000451760.1:p.Arg227GlufsTer12
ENST00000556922.1:c.677dup ENSP00000451560.1:p.Arg227GlufsTer12
NM_002386.3:c.677dup NP_002377.4:p.Arg227GlufsTer12
NM_002386.4:c.677dup MANE Select NP_002377.4:p.Arg227GlufsTer12
Search 100 bp 5'
Search 100 bp 3'