Canonical Allele Identifier: CA2635065854
Gene: MC1R HGNC NCBI

Linked Data

gnomAD v4: 16-89919606-G-GGACAAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919608_89919613dup , CM000678.2:g.89919608_89919613dup GRCh38
NC_000016.9:g.89986016_89986021dup , CM000678.1:g.89986016_89986021dup GRCh37
NC_000016.8:g.88513517_88513522dup NCBI36
NG_012026.1:g.6730_6735dup
NG_027810.1:g.2600_2605dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.350_355dup MANE Select ENSP00000451605.1:p.Asn118_Val119insAspAsn
ENST00000639847.1:c.350_355dup ENSP00000492011.1:p.Asn118_Val119insAspAsn
ENST00000555147.1:c.350_355dup ENSP00000451605.1:p.Asn118_Val119insAspAsn
ENST00000555427.1:c.350_355dup ENSP00000451760.1:p.Asn118_Val119insAspAsn
ENST00000556922.1:c.350_355dup ENSP00000451560.1:p.Asn118_Val119insAspAsn
NM_002386.3:c.350_355dup NP_002377.4:p.Asn118_Val119insAspAsn
NM_002386.4:c.350_355dup MANE Select NP_002377.4:p.Asn118_Val119insAspAsn
Search 100 bp 5'
Search 100 bp 3'