Canonical Allele Identifier: CA286607550
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1039343100
gnomAD v2: 16-89986246-GTCT-G
gnomAD v3: 16-89919838-GTCT-G
gnomAD v4: 16-89919838-GTCT-G
MyVariant Identifiers: chr16:g.89986247_89986249del (hg19) chr16:g.89919839_89919841del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919844_89919846del , CM000678.2:g.89919844_89919846del GRCh38
NC_000016.9:g.89986252_89986254del , CM000678.1:g.89986252_89986254del GRCh37
NC_000016.8:g.88513753_88513755del NCBI36
NG_012026.1:g.6966_6968del
NG_027810.1:g.2836_2838del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.586_588del MANE Select ENSP00000451605.1:p.Phe196del
ENST00000639847.1:c.586_588del ENSP00000492011.1:p.Phe196del
ENST00000555147.1:c.586_588del ENSP00000451605.1:p.Phe196del
ENST00000555427.1:c.586_588del ENSP00000451760.1:p.Phe196del
ENST00000556922.1:c.586_588del ENSP00000451560.1:p.Phe196del
NM_002386.3:c.586_588del NP_002377.4:p.Phe196del
NM_002386.4:c.586_588del MANE Select NP_002377.4:p.Phe196del
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