Canonical Allele Identifier: CA2585795805

Gene: POLR1G

Linked Data

• gnomAD v4: 19-45407255-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407259del , CM000681.2:g.45407259del	GRCh38
NC_000019.9:g.45910517del , CM000681.1:g.45910517del	GRCh37
NC_000019.8:g.50602357del	NCBI36
NG_015839.2:g.76573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.164+24del MANE Select	ENSP00000310966.3:n.164+24del
ENST00000309424.7:c.164+24del	ENSP00000310966.3:n.164+24del
ENST00000589804.1:c.170+24del	ENSP00000465099.1:n.170+24del
ENST00000590794.1:c.20+541del
ENST00000592852.1:c.-371+24del	ENSP00000467771.1:n.-371+24del
NM_001297590.1:c.170+24del	NP_001284519.1:n.170+24del
NM_012099.1:c.164+24del	NP_036231.1:n.164+24del
NM_001297590.2:c.170+24del	NP_001284519.1:n.170+24del
NM_012099.2:c.164+24del	NP_036231.1:n.164+24del
NM_001297590.3:c.170+24del	NP_001284519.1:n.170+24del
NM_012099.3:c.164+24del MANE Select	NP_036231.1:n.164+24del