Canonical Allele Identifier: CA2635065251

Gene: MC1R

Linked Data

• ClinVar Variation Id: 2777409
• ClinVar RCV Id: RCV003629319
• gnomAD v4: 16-89919438-GGCCACCATC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919443_89919451del , CM000678.2:g.89919443_89919451del	GRCh38
NC_000016.9:g.89985851_89985859del , CM000678.1:g.89985851_89985859del	GRCh37
NC_000016.8:g.88513352_88513360del	NCBI36
NG_012026.1:g.6565_6573del
NG_027810.1:g.2435_2443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.185_193del MANE Select	ENSP00000451605.1:p.Thr62_Ala64del
ENST00000639847.1:c.185_193del	ENSP00000492011.1:p.Thr62_Ala64del
ENST00000555147.1:c.185_193del	ENSP00000451605.1:p.Thr62_Ala64del
ENST00000555427.1:c.185_193del	ENSP00000451760.1:p.Thr62_Ala64del
ENST00000556922.1:c.185_193del	ENSP00000451560.1:p.Thr62_Ala64del
NM_002386.3:c.185_193del	NP_002377.4:p.Thr62_Ala64del
NM_002386.4:c.185_193del MANE Select	NP_002377.4:p.Thr62_Ala64del