Canonical Allele Identifier: CA2242009314

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919351_89919352delinsAG , CM000678.2:g.89919351_89919352delinsAG	GRCh38
NC_000016.9:g.89985759_89985760delinsAG , CM000678.1:g.89985759_89985760delinsAG	GRCh37
NC_000016.8:g.88513260_88513261delinsAG	NCBI36
NG_012026.1:g.6473_6474delinsAG
NG_027810.1:g.2343_2344delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.93_94delinsAG MANE Select	ENSP00000451605.1:p.Thr31=
ENST00000639847.1:c.93_94delinsAG	ENSP00000492011.1:p.Thr31=
ENST00000555147.1:c.93_94delinsAG	ENSP00000451605.1:p.Thr31=
ENST00000555427.1:c.93_94delinsAG	ENSP00000451760.1:p.Thr31=
ENST00000556922.1:c.93_94delinsAG	ENSP00000451560.1:p.Thr31=
NM_002386.3:c.93_94delinsAG	NP_002377.4:p.Thr31=
NM_002386.4:c.93_94delinsAG MANE Select	NP_002377.4:p.Thr31=