Canonical Allele Identifier: CA8255511
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1014326
ClinVar RCV Id: RCV001313042
dbSNP Id: rs746511891
ExAC: 16:89985834 C / CG
gnomAD v2: 16-89985834-C-CG
gnomAD v3: 16-89919426-C-CG
gnomAD v4: 16-89919426-C-CG
MyVariant Identifiers: chr16:g.89985834_89985835insG (hg19) chr16:g.89919426_89919427insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919427dup , CM000678.2:g.89919427dup GRCh38
NC_000016.9:g.89985835dup , CM000678.1:g.89985835dup GRCh37
NC_000016.8:g.88513336dup NCBI36
NG_012026.1:g.6549dup
NG_027810.1:g.2419dup

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.169dup MANE Select ENSP00000451605.1:p.Ala57GlyfsTer?
ENST00000639847.1:c.169dup ENSP00000492011.1:p.Ala57GlyfsTer?
ENST00000555147.1:c.169dup ENSP00000451605.1:p.Ala57GlyfsTer?
ENST00000555427.1:c.169dup ENSP00000451760.1:p.Ala57GlyfsTer?
ENST00000556922.1:c.169dup ENSP00000451560.1:p.Ala57GlyfsTer?
NM_002386.3:c.169dup NP_002377.4:p.Ala57GlyfsTer?
NM_002386.4:c.169dup MANE Select NP_002377.4:p.Ala57GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'