Canonical Allele Identifier: CA633334788

Gene: POLR1G

Linked Data

• dbSNP Id: rs1343837410
• gnomAD v2: 19-45910142-T-TG
• gnomAD v3: 19-45406884-T-TG
• gnomAD v4: 19-45406884-T-TG
• COSMIC: COSN20143805
• MyVariant Identifiers: chr19:g.45910142_45910143insG (hg19) ; chr19:g.45406884_45406885insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406890dup , CM000681.2:g.45406890dup	GRCh38
NC_000019.9:g.45910148dup , CM000681.1:g.45910148dup	GRCh37
NC_000019.8:g.50601988dup	NCBI36
NG_015839.2:g.76944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+172dup MANE Select	ENSP00000310966.3:n.22+172dup
ENST00000309424.7:c.22+172dup	ENSP00000310966.3:n.22+172dup
ENST00000589804.1:c.28+166dup	ENSP00000465099.1:n.28+166dup
ENST00000590794.1:c.20+172dup
ENST00000592852.1:c.-716dup	ENSP00000467771.1:n.-716dup
NM_001297590.1:c.28+166dup	NP_001284519.1:n.28+166dup
NM_012099.1:c.22+172dup	NP_036231.1:n.22+172dup
NM_001297590.2:c.28+166dup	NP_001284519.1:n.28+166dup
NM_012099.2:c.22+172dup	NP_036231.1:n.22+172dup
NM_001297590.3:c.28+166dup	NP_001284519.1:n.28+166dup
NM_012099.3:c.22+172dup MANE Select	NP_036231.1:n.22+172dup