Canonical Allele Identifier: CA8255549
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1401056
ClinVar RCV Id: RCV001896845
dbSNP Id: rs754573808
ExAC: 16:89985958 ATCC / A
gnomAD v2: 16-89985958-ATCC-A
gnomAD v3: 16-89919550-ATCC-A
gnomAD v4: 16-89919550-ATCC-A
MyVariant Identifiers: chr16:g.89985959_89985961del (hg19) chr16:g.89919552_89919554del (hg38) chr16:g.89919551_89919553del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919555_89919557del , CM000678.2:g.89919555_89919557del GRCh38
NC_000016.9:g.89985963_89985965del , CM000678.1:g.89985963_89985965del GRCh37
NC_000016.8:g.88513464_88513466del NCBI36
NG_012026.1:g.6677_6679del
NG_027810.1:g.2547_2549del

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.297_299del MANE Select ENSP00000451605.1:p.Leu100del
ENST00000639847.1:c.297_299del ENSP00000492011.1:p.Leu100del
ENST00000555147.1:c.297_299del ENSP00000451605.1:p.Leu100del
ENST00000555427.1:c.297_299del ENSP00000451760.1:p.Leu100del
ENST00000556922.1:c.297_299del ENSP00000451560.1:p.Leu100del
NM_002386.3:c.297_299del NP_002377.4:p.Leu100del
NM_002386.4:c.297_299del MANE Select NP_002377.4:p.Leu100del
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