Canonical Allele Identifier: CA2635066957

Gene: MC1R

Linked Data

• gnomAD v4: 16-89919916-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919917_89919918dup , CM000678.2:g.89919917_89919918dup	GRCh38
NC_000016.9:g.89986325_89986326dup , CM000678.1:g.89986325_89986326dup	GRCh37
NC_000016.8:g.88513826_88513827dup	NCBI36
NG_012026.1:g.7039_7040dup
NG_027810.1:g.2909_2910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.659_660dup MANE Select	ENSP00000451605.1:p.Ile221AlafsTer?
ENST00000639847.1:c.659_660dup	ENSP00000492011.1:p.Ile221AlafsTer?
ENST00000555147.1:c.659_660dup	ENSP00000451605.1:p.Ile221AlafsTer?
ENST00000555427.1:c.659_660dup	ENSP00000451760.1:p.Ile221AlafsTer?
ENST00000556922.1:c.659_660dup	ENSP00000451560.1:p.Ile221AlafsTer?
NM_002386.3:c.659_660dup	NP_002377.4:p.Ile221AlafsTer?
NM_002386.4:c.659_660dup MANE Select	NP_002377.4:p.Ile221AlafsTer?