Canonical Allele Identifier: CA1921506502

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999891_77999901delinsCAGCTCATGTG , CM000672.2:g.77999891_77999901delinsCAGCTCATGTG	GRCh38
NC_000010.10:g.79759649_79759659delinsCAGCTCATGTG , CM000672.1:g.79759649_79759659delinsCAGCTCATGTG	GRCh37
NC_000010.9:g.79429655_79429665delinsCAGCTCATGTG	NCBI36
NG_029648.1:g.34640_34650delinsCACATGAGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1676+80_1676+90delinsCACATGAGCTG
ENST00000698728.1:n.2195+80_2195+90delinsCACATGAGCTG
ENST00000698729.1:n.3741+80_3741+90delinsCACATGAGCTG
ENST00000698730.1:n.3741+80_3741+90delinsCACATGAGCTG
ENST00000698731.1:c.2475+80_2475+90delinsCACATGAGCTG	ENSP00000513898.1:n.2475+80_2475+90delinsCACATGAGCTG
ENST00000698732.1:c.*1477+80_*1477+90delinsCACATGAGCTG	ENSP00000513899.1:n.*1477+80_*1477+90delinsCACATGAGCTG
ENST00000698733.1:c.*1803+80_*1803+90delinsCACATGAGCTG	ENSP00000513900.1:n.*1803+80_*1803+90delinsCACATGAGCTG
ENST00000698734.1:c.2616+80_2616+90delinsCACATGAGCTG	ENSP00000513901.1:n.2616+80_2616+90delinsCACATGAGCTG
ENST00000698735.1:n.2731+80_2731+90delinsCACATGAGCTG
ENST00000698736.1:n.2731+80_2731+90delinsCACATGAGCTG
ENST00000698737.1:n.2731+80_2731+90delinsCACATGAGCTG
ENST00000698738.1:n.2731+80_2731+90delinsCACATGAGCTG
ENST00000698739.1:n.2731+80_2731+90delinsCACATGAGCTG
ENST00000372371.8:c.2616+80_2616+90delinsCACATGAGCTG MANE Select	ENSP00000361446.3:n.2616+80_2616+90delinsCACATGAGCTG
ENST00000372371.7:c.2616+80_2616+90delinsCACATGAGCTG	ENSP00000361446.3:n.2616+80_2616+90delinsCACATGAGCTG
ENST00000472014.5:n.469+4815_469+4825delinsCACATGAGCTG
NM_007055.3:c.2616+80_2616+90delinsCACATGAGCTG	NP_008986.2:n.2616+80_2616+90delinsCACATGAGCTG
NM_007055.4:c.2616+80_2616+90delinsCACATGAGCTG MANE Select	NP_008986.2:n.2616+80_2616+90delinsCACATGAGCTG