Canonical Allele Identifier: CA2635065872
Gene: MC1R HGNC NCBI

Linked Data

gnomAD v4: 16-89919609-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919611dup , CM000678.2:g.89919611dup GRCh38
NC_000016.9:g.89986019dup , CM000678.1:g.89986019dup GRCh37
NC_000016.8:g.88513520dup NCBI36
NG_012026.1:g.6733dup
NG_027810.1:g.2603dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.353dup MANE Select ENSP00000451605.1:p.Asn118LysfsTer4
ENST00000639847.1:c.353dup ENSP00000492011.1:p.Asn118LysfsTer4
ENST00000555147.1:c.353dup ENSP00000451605.1:p.Asn118LysfsTer4
ENST00000555427.1:c.353dup ENSP00000451760.1:p.Asn118LysfsTer4
ENST00000556922.1:c.353dup ENSP00000451560.1:p.Asn118LysfsTer4
NM_002386.3:c.353dup NP_002377.4:p.Asn118LysfsTer4
NM_002386.4:c.353dup MANE Select NP_002377.4:p.Asn118LysfsTer4
Search 100 bp 5'
Search 100 bp 3'