Canonical Allele Identifier: CA2242009315
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs2045690010
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919353del , CM000678.2:g.89919353del GRCh38
NC_000016.9:g.89985761del , CM000678.1:g.89985761del GRCh37
NC_000016.8:g.88513262del NCBI36
NG_012026.1:g.6475del
NG_027810.1:g.2345del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.95del MANE Select ENSP00000451605.1:p.Gly32GlufsTer20
ENST00000639847.1:c.95del ENSP00000492011.1:p.Gly32GlufsTer20
ENST00000555147.1:c.95del ENSP00000451605.1:p.Gly32GlufsTer20
ENST00000555427.1:c.95del ENSP00000451760.1:p.Gly32GlufsTer20
ENST00000556922.1:c.95del ENSP00000451560.1:p.Gly32GlufsTer20
NM_002386.3:c.95del NP_002377.4:p.Gly32GlufsTer20
NM_002386.4:c.95del MANE Select NP_002377.4:p.Gly32GlufsTer20
Search 100 bp 5'
Search 100 bp 3'