Canonical Allele Identifier: CA53645830

Gene: POLR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112549516del , CM000664.2:g.112549516del	GRCh38
NC_000002.11:g.113307093del , CM000664.1:g.113307093del	GRCh37
NC_000002.10:g.113023564del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_019014.6:c.625+117del MANE Select	NP_061887.2:n.625+117del
ENST00000263331.10:c.625+117del MANE Select	ENSP00000263331.5:n.625+117del
NM_001137604.2:c.457+117del	NP_001131076.1:n.457+117del
NM_001137604.3:c.457+117del	NP_001131076.1:n.457+117del
NM_001282772.1:c.739+117del	NP_001269701.1:n.739+117del
NM_001282772.2:c.739+117del	NP_001269701.1:n.739+117del
NM_001282774.1:c.625+117del	NP_001269703.1:n.625+117del
NM_001282774.2:c.625+117del	NP_001269703.1:n.625+117del
NM_001282776.1:c.-8-1350del	NP_001269705.1:n.-8-1350del
NM_001282776.2:c.-8-1350del	NP_001269705.1:n.-8-1350del
NM_001282777.1:c.208+117del	NP_001269706.1:n.208+117del
NM_001282777.2:c.208+117del	NP_001269706.1:n.208+117del
NM_001282779.1:c.208+117del	NP_001269708.1:n.208+117del
NM_001282779.2:c.208+117del	NP_001269708.1:n.208+117del
NM_001371969.1:c.625+117del	NP_001358898.1:n.625+117del
NM_001371970.1:c.208+117del	NP_001358899.1:n.208+117del
NM_001371971.1:c.-8-1350del	NP_001358900.1:n.-8-1350del
NM_019014.5:c.625+117del	NP_061887.2:n.625+117del
ENST00000263331.9:c.625+117del	ENSP00000263331.5:n.625+117del
ENST00000333990.10:c.*495+117del	ENSP00000334589.6:n.*495+117del
ENST00000409894.7:c.625+117del	ENSP00000387143.3:n.625+117del
ENST00000417433.6:c.457+117del	ENSP00000405358.2:n.457+117del
ENST00000430293.1:c.178-1350del	ENSP00000403094.1:n.178-1350del
ENST00000448770.5:c.177+6845del	ENSP00000390274.1:n.177+6845del
ENST00000468475.1:n.526+117del
ENST00000537335.5:c.-8-1350del	ENSP00000437914.1:n.-8-1350del
ENST00000541869.5:c.739+117del	ENSP00000444136.1:n.739+117del