Canonical Allele Identifier: CA2580092414
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2007810
ClinVar RCV Id: RCV002833387
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919842_89919843delinsAG , CM000678.2:g.89919842_89919843delinsAG GRCh38
NC_000016.9:g.89986250_89986251delinsAG , CM000678.1:g.89986250_89986251delinsAG GRCh37
NC_000016.8:g.88513751_88513752delinsAG NCBI36
NG_012026.1:g.6964_6965delinsAG
NG_027810.1:g.2834_2835delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.584_585delinsAG MANE Select ENSP00000451605.1:p.Phe195Ter
ENST00000639847.1:c.584_585delinsAG ENSP00000492011.1:p.Phe195Ter
ENST00000555147.1:c.584_585delinsAG ENSP00000451605.1:p.Phe195Ter
ENST00000555427.1:c.584_585delinsAG ENSP00000451760.1:p.Phe195Ter
ENST00000556922.1:c.584_585delinsAG ENSP00000451560.1:p.Phe195Ter
NM_002386.3:c.584_585delinsAG NP_002377.4:p.Phe195Ter
NM_002386.4:c.584_585delinsAG MANE Select NP_002377.4:p.Phe195Ter
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