Canonical Allele Identifier: CA633334875

Gene: POLR1G

Linked Data

• dbSNP Id: rs1227015439
• gnomAD v2: 19-45910371-T-TC
• MyVariant Identifiers: chr19:g.45910371_45910372insC (hg19) ; chr19:g.45407113_45407114insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407119dup , CM000681.2:g.45407119dup	GRCh38
NC_000019.9:g.45910377dup , CM000681.1:g.45910377dup	GRCh37
NC_000019.8:g.50602217dup	NCBI36
NG_015839.2:g.76715dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.48dup MANE Select	ENSP00000310966.3:p.Asn17GlnfsTer?
ENST00000309424.7:c.48dup	ENSP00000310966.3:p.Asn17GlnfsTer?
ENST00000589804.1:c.54dup	ENSP00000465099.1:p.Asn19GlnfsTer?
ENST00000590794.1:c.20+401dup
ENST00000592852.1:c.-487dup	ENSP00000467771.1:n.-487dup
NM_001297590.1:c.54dup	NP_001284519.1:p.Asn19GlnfsTer?
NM_012099.1:c.48dup	NP_036231.1:p.Asn17GlnfsTer?
NM_001297590.2:c.54dup	NP_001284519.1:p.Asn19GlnfsTer?
NM_012099.2:c.48dup	NP_036231.1:p.Asn17GlnfsTer?
NM_001297590.3:c.54dup	NP_001284519.1:p.Asn19GlnfsTer?
NM_012099.3:c.48dup MANE Select	NP_036231.1:p.Asn17GlnfsTer?