Canonical Allele Identifier: CA2585795606
Gene: POLR1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45406860_45406861del , CM000681.2:g.45406860_45406861del GRCh38
NC_000019.9:g.45910118_45910119del , CM000681.1:g.45910118_45910119del GRCh37
NC_000019.8:g.50601958_50601959del NCBI36
NG_015839.2:g.76968_76969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.22+142_22+143del MANE Select ENSP00000310966.3:n.22+142_22+143del
ENST00000309424.7:c.22+142_22+143del ENSP00000310966.3:n.22+142_22+143del
ENST00000589804.1:c.28+136_28+137del ENSP00000465099.1:n.28+136_28+137del
ENST00000590794.1:c.20+142_20+143del
ENST00000592852.1:c.-746_-745del ENSP00000467771.1:n.-746_-745del
NM_001297590.1:c.28+136_28+137del NP_001284519.1:n.28+136_28+137del
NM_012099.1:c.22+142_22+143del NP_036231.1:n.22+142_22+143del
NM_001297590.2:c.28+136_28+137del NP_001284519.1:n.28+136_28+137del
NM_012099.2:c.22+142_22+143del NP_036231.1:n.22+142_22+143del
NM_001297590.3:c.28+136_28+137del NP_001284519.1:n.28+136_28+137del
NM_012099.3:c.22+142_22+143del MANE Select NP_036231.1:n.22+142_22+143del