Canonical Allele Identifier: CA8255692

Gene: MC1R

Linked Data

• dbSNP Id: rs746326142
• ExAC: 16:89986300 GCCCGGGCCTGCCAGCACGC / G
• gnomAD v2: 16-89986300-GCCCGGGCCTGCCAGCACGC-G
• gnomAD v3: 16-89919892-GCCCGGGCCTGCCAGCACGC-G
• gnomAD v4: 16-89919892-GCCCGGGCCTGCCAGCACGC-G
• MyVariant Identifiers: chr16:g.89986301_89986319del (hg19) ; chr16:g.89919893_89919911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919895_89919913del , CM000678.2:g.89919895_89919913del	GRCh38
NC_000016.9:g.89986303_89986321del , CM000678.1:g.89986303_89986321del	GRCh37
NC_000016.8:g.88513804_88513822del	NCBI36
NG_012026.1:g.7017_7035del
NG_027810.1:g.2887_2905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.637_655del MANE Select	ENSP00000451605.1:p.Cys215SerfsTer?
ENST00000639847.1:c.637_655del	ENSP00000492011.1:p.Cys215SerfsTer?
ENST00000555147.1:c.637_655del	ENSP00000451605.1:p.Cys215SerfsTer?
ENST00000555427.1:c.637_655del	ENSP00000451760.1:p.Cys215SerfsTer?
ENST00000556922.1:c.637_655del	ENSP00000451560.1:p.Cys215SerfsTer?
NM_002386.3:c.637_655del	NP_002377.4:p.Cys215SerfsTer?
NM_002386.4:c.637_655del MANE Select	NP_002377.4:p.Cys215SerfsTer?