Canonical Allele Identifier: CA2788644004

Gene: POLR3A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78010024_78010025insCCAAACACACCCAACAC , CM000672.2:g.78010024_78010025insCCAAACACACCCAACAC	GRCh38
NC_000010.10:g.79769782_79769783insCCAAACACACCCAACAC , CM000672.1:g.79769782_79769783insCCAAACACACCCAACAC	GRCh37
NC_000010.9:g.79439788_79439789insCCAAACACACCCAACAC	NCBI36
NG_029648.1:g.24516_24517insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1222-34_1222-33insGTGTTGGGTGTGTTTGG
ENST00000698729.1:n.2768-34_2768-33insGTGTTGGGTGTGTTTGG
ENST00000698730.1:n.2768-34_2768-33insGTGTTGGGTGTGTTTGG
ENST00000698731.1:c.1502-34_1502-33insGTGTTGGGTGTGTTTGG	ENSP00000513898.1:n.1502-34_1502-33insGTGTTGGGTGTGTTTGG
ENST00000698732.1:c.*504-34_*504-33insGTGTTGGGTGTGTTTGG	ENSP00000513899.1:n.*504-34_*504-33insGTGTTGGGTGTGTTTGG
ENST00000698733.1:c.*830-34_*830-33insGTGTTGGGTGTGTTTGG	ENSP00000513900.1:n.*830-34_*830-33insGTGTTGGGTGTGTTTGG
ENST00000698734.1:c.1643-34_1643-33insGTGTTGGGTGTGTTTGG	ENSP00000513901.1:n.1643-34_1643-33insGTGTTGGGTGTGTTTGG
ENST00000698735.1:n.1758-34_1758-33insGTGTTGGGTGTGTTTGG
ENST00000698736.1:n.1758-34_1758-33insGTGTTGGGTGTGTTTGG
ENST00000698737.1:n.1758-34_1758-33insGTGTTGGGTGTGTTTGG
ENST00000698738.1:n.1758-34_1758-33insGTGTTGGGTGTGTTTGG
ENST00000698739.1:n.1758-34_1758-33insGTGTTGGGTGTGTTTGG
ENST00000372371.8:c.1643-34_1643-33insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000361446.3:n.1643-34_1643-33insGTGTTGGGTGTGTTTGG
ENST00000372371.7:c.1643-34_1643-33insGTGTTGGGTGTGTTTGG	ENSP00000361446.3:n.1643-34_1643-33insGTGTTGGGTGTGTTTGG
ENST00000473588.2:c.445-34_445-33insGTGTTGGGTGTGTTTGG
NM_007055.3:c.1643-34_1643-33insGTGTTGGGTGTGTTTGG	NP_008986.2:n.1643-34_1643-33insGTGTTGGGTGTGTTTGG
NM_007055.4:c.1643-34_1643-33insGTGTTGGGTGTGTTTGG MANE Select	NP_008986.2:n.1643-34_1643-33insGTGTTGGGTGTGTTTGG