Canonical Allele Identifier: CA8255700

Gene: MC1R

Linked Data

• ClinVar Variation Id: 1491281
• ClinVar RCV Id: RCV002010026
• dbSNP Id: rs772551710
• ExAC: 16:89986328 TCGCCCGGCTCCACAAGAGGCAG / T
• gnomAD v2: 16-89986328-TCGCCCGGCTCCACAAGAGGCAG-T
• gnomAD v3: 16-89919920-TCGCCCGGCTCCACAAGAGGCAG-T
• gnomAD v4: 16-89919920-TCGCCCGGCTCCACAAGAGGCAG-T
• MyVariant Identifiers: chr16:g.89986329_89986350del (hg19) ; chr16:g.89919921_89919942del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919928_89919949del , CM000678.2:g.89919928_89919949del	GRCh38
NC_000016.9:g.89986336_89986357del , CM000678.1:g.89986336_89986357del	GRCh37
NC_000016.8:g.88513837_88513858del	NCBI36
NG_012026.1:g.7050_7071del
NG_027810.1:g.2920_2941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.670_691del MANE Select	ENSP00000451605.1:p.Leu224SerfsTer?
ENST00000639847.1:c.670_691del	ENSP00000492011.1:p.Leu224SerfsTer?
ENST00000555147.1:c.670_691del	ENSP00000451605.1:p.Leu224SerfsTer?
ENST00000555427.1:c.670_691del	ENSP00000451760.1:p.Leu224SerfsTer?
ENST00000556922.1:c.670_691del	ENSP00000451560.1:p.Leu224SerfsTer?
NM_002386.3:c.670_691del	NP_002377.4:p.Leu224SerfsTer?
NM_002386.4:c.670_691del MANE Select	NP_002377.4:p.Leu224SerfsTer?