Canonical Allele Identifier: CA2576103996
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919669del , CM000678.2:g.89919669del GRCh38
NC_000016.9:g.89986077del , CM000678.1:g.89986077del GRCh37
NC_000016.8:g.88513578del NCBI36
NG_012026.1:g.6791del
NG_027810.1:g.2661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.411del MANE Select ENSP00000451605.1:p.Ile138SerfsTer19
ENST00000639847.1:c.411del ENSP00000492011.1:p.Ile138SerfsTer19
ENST00000555147.1:c.411del ENSP00000451605.1:p.Ile138SerfsTer19
ENST00000555427.1:c.411del ENSP00000451760.1:p.Ile138SerfsTer19
ENST00000556922.1:c.411del ENSP00000451560.1:p.Ile138SerfsTer19
NM_002386.3:c.411del NP_002377.4:p.Ile138SerfsTer19
NM_002386.4:c.411del MANE Select NP_002377.4:p.Ile138SerfsTer19