Canonical Allele Identifier: CA2609821866
Gene: POLR3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.77999858_77999859del , CM000672.2:g.77999858_77999859del GRCh38
NC_000010.10:g.79759616_79759617del , CM000672.1:g.79759616_79759617del GRCh37
NC_000010.9:g.79429622_79429623del NCBI36
NG_029648.1:g.34682_34683del

Transcript Alleles

HGVS Amino-acid change
ENST00000698727.1:n.1676+122_1676+123del
ENST00000698728.1:n.2195+122_2195+123del
ENST00000698729.1:n.3741+122_3741+123del
ENST00000698730.1:n.3741+122_3741+123del
ENST00000698731.1:c.2475+122_2475+123del ENSP00000513898.1:n.2475+122_2475+123del
ENST00000698732.1:c.*1477+122_*1477+123del ENSP00000513899.1:n.*1477+122_*1477+123del
ENST00000698733.1:c.*1803+122_*1803+123del ENSP00000513900.1:n.*1803+122_*1803+123del
ENST00000698734.1:c.2616+122_2616+123del ENSP00000513901.1:n.2616+122_2616+123del
ENST00000698735.1:n.2731+122_2731+123del
ENST00000698736.1:n.2731+122_2731+123del
ENST00000698737.1:n.2731+122_2731+123del
ENST00000698738.1:n.2731+122_2731+123del
ENST00000698739.1:n.2731+122_2731+123del
ENST00000372371.8:c.2616+122_2616+123del MANE Select ENSP00000361446.3:n.2616+122_2616+123del
ENST00000372371.7:c.2616+122_2616+123del ENSP00000361446.3:n.2616+122_2616+123del
ENST00000472014.5:n.469+4857_469+4858del
NM_007055.3:c.2616+122_2616+123del NP_008986.2:n.2616+122_2616+123del
NM_007055.4:c.2616+122_2616+123del MANE Select NP_008986.2:n.2616+122_2616+123del