Canonical Allele Identifier: CA2242009541
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919695_89919696delinsTC , CM000678.2:g.89919695_89919696delinsTC GRCh38
NC_000016.9:g.89986103_89986104delinsTC , CM000678.1:g.89986103_89986104delinsTC GRCh37
NC_000016.8:g.88513604_88513605delinsTC NCBI36
NG_012026.1:g.6817_6818delinsTC
NG_027810.1:g.2687_2688delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.437_438delinsTC MANE Select ENSP00000451605.1:p.Ile146=
ENST00000639847.1:c.437_438delinsTC ENSP00000492011.1:p.Ile146=
ENST00000555147.1:c.437_438delinsTC ENSP00000451605.1:p.Ile146=
ENST00000555427.1:c.437_438delinsTC ENSP00000451760.1:p.Ile146=
ENST00000556922.1:c.437_438delinsTC ENSP00000451560.1:p.Ile146=
NM_002386.3:c.437_438delinsTC NP_002377.4:p.Ile146=
NM_002386.4:c.437_438delinsTC MANE Select NP_002377.4:p.Ile146=