Canonical Allele Identifier: CA2635067122
Gene: MC1R HGNC NCBI

Linked Data

gnomAD v4: 16-89919974-GCGCTGTCACCCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919976_89919987del , CM000678.2:g.89919976_89919987del GRCh38
NC_000016.9:g.89986384_89986395del , CM000678.1:g.89986384_89986395del GRCh37
NC_000016.8:g.88513885_88513896del NCBI36
NG_012026.1:g.7098_7109del
NG_027810.1:g.2968_2979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.718_729del MANE Select ENSP00000451605.1:p.Ala240_Leu243del
ENST00000639847.1:c.718_729del ENSP00000492011.1:p.Ala240_Leu243del
ENST00000555147.1:c.718_729del ENSP00000451605.1:p.Ala240_Leu243del
ENST00000555427.1:c.718_729del ENSP00000451760.1:p.Ala240_Leu243del
ENST00000556922.1:c.718_729del ENSP00000451560.1:p.Ala240_Leu243del
NM_002386.3:c.718_729del NP_002377.4:p.Ala240_Leu243del
NM_002386.4:c.718_729del MANE Select NP_002377.4:p.Ala240_Leu243del
Search 100 bp 5'
Search 100 bp 3'