Canonical Allele Identifier: CA2338417211
Gene: POLR1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407113_45407114delinsTC , CM000681.2:g.45407113_45407114delinsTC GRCh38
NC_000019.9:g.45910371_45910372delinsTC , CM000681.1:g.45910371_45910372delinsTC GRCh37
NC_000019.8:g.50602211_50602212delinsTC NCBI36
NG_015839.2:g.76715_76716delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.42_43delinsTC MANE Select ENSP00000310966.3:p.Cys14=
ENST00000309424.7:c.42_43delinsTC ENSP00000310966.3:p.Cys14=
ENST00000589804.1:c.48_49delinsTC ENSP00000465099.1:p.Cys16=
ENST00000590794.1:c.20+395_20+396delinsTC
ENST00000592852.1:c.-493_-492delinsTC ENSP00000467771.1:n.-493_-492delinsTC
NM_001297590.1:c.48_49delinsTC NP_001284519.1:p.Cys16=
NM_012099.1:c.42_43delinsTC NP_036231.1:p.Cys14=
NM_001297590.2:c.48_49delinsTC NP_001284519.1:p.Cys16=
NM_012099.2:c.42_43delinsTC NP_036231.1:p.Cys14=
NM_001297590.3:c.48_49delinsTC NP_001284519.1:p.Cys16=
NM_012099.3:c.42_43delinsTC MANE Select NP_036231.1:p.Cys14=