Canonical Allele Identifier: CA633334789

Gene: POLR1G

Linked Data

• dbSNP Id: rs1411855820
• gnomAD v2: 19-45910151-A-AC
• gnomAD v3: 19-45406893-A-AC
• gnomAD v4: 19-45406893-A-AC
• MyVariant Identifiers: chr19:g.45910151_45910152insC (hg19) ; chr19:g.45406893_45406894insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45406896dup , CM000681.2:g.45406896dup	GRCh38
NC_000019.9:g.45910154dup , CM000681.1:g.45910154dup	GRCh37
NC_000019.8:g.50601994dup	NCBI36
NG_015839.2:g.76935dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309424.8:c.22+178dup MANE Select	ENSP00000310966.3:n.22+178dup
ENST00000309424.7:c.22+178dup	ENSP00000310966.3:n.22+178dup
ENST00000589804.1:c.28+172dup	ENSP00000465099.1:n.28+172dup
ENST00000590794.1:c.20+178dup
ENST00000592852.1:c.-710dup	ENSP00000467771.1:n.-710dup
NM_001297590.1:c.28+172dup	NP_001284519.1:n.28+172dup
NM_012099.1:c.22+178dup	NP_036231.1:n.22+178dup
NM_001297590.2:c.28+172dup	NP_001284519.1:n.28+172dup
NM_012099.2:c.22+178dup	NP_036231.1:n.22+178dup
NM_001297590.3:c.28+172dup	NP_001284519.1:n.28+172dup
NM_012099.3:c.22+178dup MANE Select	NP_036231.1:n.22+178dup