Canonical Allele Identifier: CA9514878

Gene: POLR1G

Linked Data

• dbSNP Id: rs771308001
• ExAC: 19:45910403 C / CA
• gnomAD v2: 19-45910403-C-CA
• gnomAD v3: 19-45407145-C-CA
• gnomAD v4: 19-45407145-C-CA
• MyVariant Identifiers: chr19:g.45910403_45910404insA (hg19) ; chr19:g.45407145_45407146insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45407146dup , CM000681.2:g.45407146dup	GRCh38
NC_000019.9:g.45910404dup , CM000681.1:g.45910404dup	GRCh37
NC_000019.8:g.50602244dup	NCBI36
NG_015839.2:g.76683dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.75dup MANE Select	ENSP00000310966.3:p.Glu26ArgfsTer?
ENST00000309424.7:c.75dup	ENSP00000310966.3:p.Glu26ArgfsTer?
ENST00000589804.1:c.81dup	ENSP00000465099.1:p.Glu28ArgfsTer?
ENST00000590794.1:c.20+428dup
ENST00000592852.1:c.-460dup	ENSP00000467771.1:n.-460dup
NM_001297590.1:c.81dup	NP_001284519.1:p.Glu28ArgfsTer?
NM_012099.1:c.75dup	NP_036231.1:p.Glu26ArgfsTer?
NM_001297590.2:c.81dup	NP_001284519.1:p.Glu28ArgfsTer?
NM_012099.2:c.75dup	NP_036231.1:p.Glu26ArgfsTer?
NM_001297590.3:c.81dup	NP_001284519.1:p.Glu28ArgfsTer?
NM_012099.3:c.75dup MANE Select	NP_036231.1:p.Glu26ArgfsTer?