Canonical Allele Identifier: CA2242009538
Gene: MC1R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919692_89919695delinsCCAT , CM000678.2:g.89919692_89919695delinsCCAT GRCh38
NC_000016.9:g.89986100_89986103delinsCCAT , CM000678.1:g.89986100_89986103delinsCCAT GRCh37
NC_000016.8:g.88513601_88513604delinsCCAT NCBI36
NG_012026.1:g.6814_6817delinsCCAT
NG_027810.1:g.2684_2687delinsCCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.434_437delinsCCAT MANE Select ENSP00000451605.1:p.Ser145=
ENST00000639847.1:c.434_437delinsCCAT ENSP00000492011.1:p.Ser145=
ENST00000555147.1:c.434_437delinsCCAT ENSP00000451605.1:p.Ser145=
ENST00000555427.1:c.434_437delinsCCAT ENSP00000451760.1:p.Ser145=
ENST00000556922.1:c.434_437delinsCCAT ENSP00000451560.1:p.Ser145=
NM_002386.3:c.434_437delinsCCAT NP_002377.4:p.Ser145=
NM_002386.4:c.434_437delinsCCAT MANE Select NP_002377.4:p.Ser145=
Search 100 bp 5'
Search 100 bp 3'