Canonical Allele Identifier: CA2558438073

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45407221-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407223_45407224del , CM000681.2:g.45407223_45407224del	GRCh38
NC_000019.9:g.45910481_45910482del , CM000681.1:g.45910481_45910482del	GRCh37
NC_000019.8:g.50602321_50602322del	NCBI36
NG_015839.2:g.76606_76607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.152_153del MANE Select	ENSP00000310966.3:p.Phe51CysfsTer?
ENST00000309424.7:c.152_153del	ENSP00000310966.3:p.Phe51CysfsTer?
ENST00000589804.1:c.158_159del	ENSP00000465099.1:p.Phe53CysfsTer?
ENST00000590794.1:c.20+505_20+506del
ENST00000592852.1:c.-383_-382del	ENSP00000467771.1:n.-383_-382del
NM_001297590.1:c.158_159del	NP_001284519.1:p.Phe53CysfsTer?
NM_012099.1:c.152_153del	NP_036231.1:p.Phe51CysfsTer?
NM_001297590.2:c.158_159del	NP_001284519.1:p.Phe53CysfsTer?
NM_012099.2:c.152_153del	NP_036231.1:p.Phe51CysfsTer?
NM_001297590.3:c.158_159del	NP_001284519.1:p.Phe53CysfsTer?
NM_012099.3:c.152_153del MANE Select	NP_036231.1:p.Phe51CysfsTer?