Canonical Allele Identifier: CA2635064789
Gene: MC1R HGNC NCBI

Linked Data

gnomAD v4: 16-89919324-CCAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919326_89919328del , CM000678.2:g.89919326_89919328del GRCh38
NC_000016.9:g.89985734_89985736del , CM000678.1:g.89985734_89985736del GRCh37
NC_000016.8:g.88513235_88513237del NCBI36
NG_012026.1:g.6448_6450del
NG_027810.1:g.2318_2320del

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.68_70del MANE Select ENSP00000451605.1:p.Gln23del
ENST00000639847.1:c.68_70del ENSP00000492011.1:p.Gln23del
ENST00000555147.1:c.68_70del ENSP00000451605.1:p.Gln23del
ENST00000555427.1:c.68_70del ENSP00000451760.1:p.Gln23del
ENST00000556922.1:c.68_70del ENSP00000451560.1:p.Gln23del
NM_002386.3:c.68_70del NP_002377.4:p.Gln23del
NM_002386.4:c.68_70del MANE Select NP_002377.4:p.Gln23del
Search 100 bp 5'
Search 100 bp 3'