Canonical Allele Identifier: CA2338417141

Gene: POLR1G

Linked Data

• dbSNP Id: rs1973389059
• gnomAD v4: 19-45406981-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406983del , CM000681.2:g.45406983del	GRCh38
NC_000019.9:g.45910241del , CM000681.1:g.45910241del	GRCh37
NC_000019.8:g.50602081del	NCBI36
NG_015839.2:g.76847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.23-111del MANE Select	ENSP00000310966.3:n.23-111del
ENST00000309424.7:c.23-111del	ENSP00000310966.3:n.23-111del
ENST00000589804.1:c.29-111del	ENSP00000465099.1:n.29-111del
ENST00000590794.1:c.20+265del
ENST00000592852.1:c.-623del	ENSP00000467771.1:n.-623del
NM_001297590.1:c.29-111del	NP_001284519.1:n.29-111del
NM_012099.1:c.23-111del	NP_036231.1:n.23-111del
NM_001297590.2:c.29-111del	NP_001284519.1:n.29-111del
NM_012099.2:c.23-111del	NP_036231.1:n.23-111del
NM_001297590.3:c.29-111del	NP_001284519.1:n.29-111del
NM_012099.3:c.23-111del MANE Select	NP_036231.1:n.23-111del