Canonical Allele Identifier: CA2242009841

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89920111_89920139delinsGCCCTCATCATCTGCAATGCCATCATCGA , CM000678.2:g.89920111_89920139delinsGCCCTCATCATCTGCAATGCCATCATCGA	GRCh38
NC_000016.9:g.89986519_89986547delinsGCCCTCATCATCTGCAATGCCATCATCGA , CM000678.1:g.89986519_89986547delinsGCCCTCATCATCTGCAATGCCATCATCGA	GRCh37
NC_000016.8:g.88514020_88514048delinsGCCCTCATCATCTGCAATGCCATCATCGA	NCBI36
NG_012026.1:g.7233_7261delinsGCCCTCATCATCTGCAATGCCATCATCGA
NG_027810.1:g.3103_3131delinsGCCCTCATCATCTGCAATGCCATCATCGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA MANE Select	ENSP00000451605.1:p.Ala285=
ENST00000639847.1:c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA	ENSP00000492011.1:p.Ala285=
ENST00000555147.1:c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA	ENSP00000451605.1:p.Ala285=
ENST00000555427.1:c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA	ENSP00000451760.1:p.Ala285=
ENST00000556922.1:c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA	ENSP00000451560.1:p.Ala285=
NM_002386.3:c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA	NP_002377.4:p.Ala285=
NM_002386.4:c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA MANE Select	NP_002377.4:p.Ala285=