Canonical Allele Identifier: CA2576103978

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919320del , CM000678.2:g.89919320del	GRCh38
NC_000016.9:g.89985728del , CM000678.1:g.89985728del	GRCh37
NC_000016.8:g.88513229del	NCBI36
NG_012026.1:g.6442del
NG_027810.1:g.2312del

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.62del MANE Select	ENSP00000451605.1:p.Ile21ThrfsTer?
ENST00000639847.1:c.62del	ENSP00000492011.1:p.Ile21ThrfsTer?
ENST00000555147.1:c.62del	ENSP00000451605.1:p.Ile21ThrfsTer?
ENST00000555427.1:c.62del	ENSP00000451760.1:p.Ile21ThrfsTer?
ENST00000556922.1:c.62del	ENSP00000451560.1:p.Ile21ThrfsTer?
NM_002386.3:c.62del	NP_002377.4:p.Ile21ThrfsTer?
NM_002386.4:c.62del MANE Select	NP_002377.4:p.Ile21ThrfsTer?