Canonical Allele Identifier: CA2585795617
Gene: POLR1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45406872_45406873del , CM000681.2:g.45406872_45406873del GRCh38
NC_000019.9:g.45910130_45910131del , CM000681.1:g.45910130_45910131del GRCh37
NC_000019.8:g.50601970_50601971del NCBI36
NG_015839.2:g.76961_76962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.22+154_22+155del MANE Select ENSP00000310966.3:n.22+154_22+155del
ENST00000309424.7:c.22+154_22+155del ENSP00000310966.3:n.22+154_22+155del
ENST00000589804.1:c.28+148_28+149del ENSP00000465099.1:n.28+148_28+149del
ENST00000590794.1:c.20+154_20+155del
ENST00000592852.1:c.-734_-733del ENSP00000467771.1:n.-734_-733del
NM_001297590.1:c.28+148_28+149del NP_001284519.1:n.28+148_28+149del
NM_012099.1:c.22+154_22+155del NP_036231.1:n.22+154_22+155del
NM_001297590.2:c.28+148_28+149del NP_001284519.1:n.28+148_28+149del
NM_012099.2:c.22+154_22+155del NP_036231.1:n.22+154_22+155del
NM_001297590.3:c.28+148_28+149del NP_001284519.1:n.28+148_28+149del
NM_012099.3:c.22+154_22+155del MANE Select NP_036231.1:n.22+154_22+155del