Canonical Allele Identifier: CA2242009585
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs2045698175
gnomAD v4: 16-89919745-CGAGCCGTTGCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919747_89919757del , CM000678.2:g.89919747_89919757del GRCh38
NC_000016.9:g.89986155_89986165del , CM000678.1:g.89986155_89986165del GRCh37
NC_000016.8:g.88513656_88513666del NCBI36
NG_012026.1:g.6869_6879del
NG_027810.1:g.2739_2749del

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.489_499del MANE Select ENSP00000451605.1:p.Ala164HisfsTer?
ENST00000639847.1:c.489_499del ENSP00000492011.1:p.Ala164HisfsTer?
ENST00000555147.1:c.489_499del ENSP00000451605.1:p.Ala164HisfsTer?
ENST00000555427.1:c.489_499del ENSP00000451760.1:p.Ala164HisfsTer?
ENST00000556922.1:c.489_499del ENSP00000451560.1:p.Ala164HisfsTer?
NM_002386.3:c.489_499del NP_002377.4:p.Ala164HisfsTer?
NM_002386.4:c.489_499del MANE Select NP_002377.4:p.Ala164HisfsTer?
Search 100 bp 5'
Search 100 bp 3'