Canonical Allele Identifier: CA624455319
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1567758476
gnomAD v2: 16-89986352-GC-G
gnomAD v4: 16-89919944-GC-G
MyVariant Identifiers: chr16:g.89986353del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919947del , CM000678.2:g.89919947del GRCh38
NC_000016.9:g.89986355del , CM000678.1:g.89986355del GRCh37
NC_000016.8:g.88513856del NCBI36
NG_012026.1:g.7069del
NG_027810.1:g.2939del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.689del MANE Select ENSP00000451605.1:p.Pro230ArgfsTer?
ENST00000639847.1:c.689del ENSP00000492011.1:p.Pro230ArgfsTer?
ENST00000555147.1:c.689del ENSP00000451605.1:p.Pro230ArgfsTer?
ENST00000555427.1:c.689del ENSP00000451760.1:p.Pro230ArgfsTer?
ENST00000556922.1:c.689del ENSP00000451560.1:p.Pro230ArgfsTer?
NM_002386.3:c.689del NP_002377.4:p.Pro230ArgfsTer?
NM_002386.4:c.689del MANE Select NP_002377.4:p.Pro230ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'