Canonical Allele Identifier: CA2576817097
Gene: POLR1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45407331del , CM000681.2:g.45407331del GRCh38
NC_000019.9:g.45910589del , CM000681.1:g.45910589del GRCh37
NC_000019.8:g.50602429del NCBI36
NG_015839.2:g.76498del

Transcript Alleles

HGVS Amino-acid change
ENST00000309424.8:c.164+96del MANE Select ENSP00000310966.3:n.164+96del
ENST00000309424.7:c.164+96del ENSP00000310966.3:n.164+96del
ENST00000589804.1:c.170+96del ENSP00000465099.1:n.170+96del
ENST00000590794.1:c.20+613del
ENST00000592852.1:c.-371+96del ENSP00000467771.1:n.-371+96del
NM_001297590.1:c.170+96del NP_001284519.1:n.170+96del
NM_012099.1:c.164+96del NP_036231.1:n.164+96del
NM_001297590.2:c.170+96del NP_001284519.1:n.170+96del
NM_012099.2:c.164+96del NP_036231.1:n.164+96del
NM_001297590.3:c.170+96del NP_001284519.1:n.170+96del
NM_012099.3:c.164+96del MANE Select NP_036231.1:n.164+96del