Canonical Allele Identifier: CA2635066520
Gene: MC1R HGNC NCBI

Linked Data

gnomAD v4: 16-89919775-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919776del , CM000678.2:g.89919776del GRCh38
NC_000016.9:g.89986184del , CM000678.1:g.89986184del GRCh37
NC_000016.8:g.88513685del NCBI36
NG_012026.1:g.6898del
NG_027810.1:g.2768del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.518del MANE Select ENSP00000451605.1:p.Val173AlafsTer?
ENST00000639847.1:c.518del ENSP00000492011.1:p.Val173AlafsTer?
ENST00000555147.1:c.518del ENSP00000451605.1:p.Val173AlafsTer?
ENST00000555427.1:c.518del ENSP00000451760.1:p.Val173AlafsTer?
ENST00000556922.1:c.518del ENSP00000451560.1:p.Val173AlafsTer?
NM_002386.3:c.518del NP_002377.4:p.Val173AlafsTer?
NM_002386.4:c.518del MANE Select NP_002377.4:p.Val173AlafsTer?
Search 100 bp 5'
Search 100 bp 3'