Canonical Allele Identifier: CA2814550843
Gene: POLR1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45406927_45406933del , CM000681.2:g.45406927_45406933del GRCh38
NC_000019.9:g.45910185_45910191del , CM000681.1:g.45910185_45910191del GRCh37
NC_000019.8:g.50602025_50602031del NCBI36
NG_015839.2:g.76898_76904del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.23-167_23-161del MANE Select ENSP00000310966.3:n.23-167_23-161del
ENST00000309424.7:c.23-167_23-161del ENSP00000310966.3:n.23-167_23-161del
ENST00000589804.1:c.29-167_29-161del ENSP00000465099.1:n.29-167_29-161del
ENST00000590794.1:c.20+209_20+215del
ENST00000592852.1:c.-679_-673del ENSP00000467771.1:n.-679_-673del
NM_001297590.1:c.29-167_29-161del NP_001284519.1:n.29-167_29-161del
NM_012099.1:c.23-167_23-161del NP_036231.1:n.23-167_23-161del
NM_001297590.2:c.29-167_29-161del NP_001284519.1:n.29-167_29-161del
NM_012099.2:c.23-167_23-161del NP_036231.1:n.23-167_23-161del
NM_001297590.3:c.29-167_29-161del NP_001284519.1:n.29-167_29-161del
NM_012099.3:c.23-167_23-161del MANE Select NP_036231.1:n.23-167_23-161del