Canonical Allele Identifier: CA2242009759

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919988_89920000delinsACCATCCTGCTGG , CM000678.2:g.89919988_89920000delinsACCATCCTGCTGG	GRCh38
NC_000016.9:g.89986396_89986408delinsACCATCCTGCTGG , CM000678.1:g.89986396_89986408delinsACCATCCTGCTGG	GRCh37
NC_000016.8:g.88513897_88513909delinsACCATCCTGCTGG	NCBI36
NG_012026.1:g.7110_7122delinsACCATCCTGCTGG
NG_027810.1:g.2980_2992delinsACCATCCTGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.730_742delinsACCATCCTGCTGG MANE Select	ENSP00000451605.1:p.Thr244=
ENST00000639847.1:c.730_742delinsACCATCCTGCTGG	ENSP00000492011.1:p.Thr244=
ENST00000555147.1:c.730_742delinsACCATCCTGCTGG	ENSP00000451605.1:p.Thr244=
ENST00000555427.1:c.730_742delinsACCATCCTGCTGG	ENSP00000451760.1:p.Thr244=
ENST00000556922.1:c.730_742delinsACCATCCTGCTGG	ENSP00000451560.1:p.Thr244=
NM_002386.3:c.730_742delinsACCATCCTGCTGG	NP_002377.4:p.Thr244=
NM_002386.4:c.730_742delinsACCATCCTGCTGG MANE Select	NP_002377.4:p.Thr244=