Canonical Allele Identifier: CA2635066786

Gene: MC1R

Linked Data

• gnomAD v4: 16-89919865-A-ATGGCCGTGCTGTACGTCCACATGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919871_89919894dup , CM000678.2:g.89919871_89919894dup	GRCh38
NC_000016.9:g.89986279_89986302dup , CM000678.1:g.89986279_89986302dup	GRCh37
NC_000016.8:g.88513780_88513803dup	NCBI36
NG_012026.1:g.6993_7016dup
NG_027810.1:g.2863_2886dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.613_636dup MANE Select	ENSP00000451605.1:p.Ala212_Arg213insValLeuTyrValHisMetLeuAla
ENST00000639847.1:c.613_636dup	ENSP00000492011.1:p.Ala212_Arg213insValLeuTyrValHisMetLeuAla
ENST00000555147.1:c.613_636dup	ENSP00000451605.1:p.Ala212_Arg213insValLeuTyrValHisMetLeuAla
ENST00000555427.1:c.613_636dup	ENSP00000451760.1:p.Ala212_Arg213insValLeuTyrValHisMetLeuAla
ENST00000556922.1:c.613_636dup	ENSP00000451560.1:p.Ala212_Arg213insValLeuTyrValHisMetLeuAla
NM_002386.3:c.613_636dup	NP_002377.4:p.Ala212_Arg213insValLeuTyrValHisMetLeuAla
NM_002386.4:c.613_636dup MANE Select	NP_002377.4:p.Ala212_Arg213insValLeuTyrValHisMetLeuAla