Canonical Allele Identifier: CA633334869

Gene: POLR1G

Linked Data

• dbSNP Id: rs1219644734
• gnomAD v2: 19-45910312-AAGG-A
• gnomAD v4: 19-45407054-AAGG-A
• MyVariant Identifiers: chr19:g.45910313_45910315del (hg19) ; chr19:g.45407055_45407057del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407058_45407060del , CM000681.2:g.45407058_45407060del	GRCh38
NC_000019.9:g.45910316_45910318del , CM000681.1:g.45910316_45910318del	GRCh37
NC_000019.8:g.50602156_50602158del	NCBI36
NG_015839.2:g.76772_76774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.23-36_23-34del MANE Select	ENSP00000310966.3:n.23-36_23-34del
ENST00000309424.7:c.23-36_23-34del	ENSP00000310966.3:n.23-36_23-34del
ENST00000589804.1:c.29-36_29-34del	ENSP00000465099.1:n.29-36_29-34del
ENST00000590794.1:c.20+340_20+342del
ENST00000592852.1:c.-548_-546del	ENSP00000467771.1:n.-548_-546del
NM_001297590.1:c.29-36_29-34del	NP_001284519.1:n.29-36_29-34del
NM_012099.1:c.23-36_23-34del	NP_036231.1:n.23-36_23-34del
NM_001297590.2:c.29-36_29-34del	NP_001284519.1:n.29-36_29-34del
NM_012099.2:c.23-36_23-34del	NP_036231.1:n.23-36_23-34del
NM_001297590.3:c.29-36_29-34del	NP_001284519.1:n.29-36_29-34del
NM_012099.3:c.23-36_23-34del MANE Select	NP_036231.1:n.23-36_23-34del