Canonical Allele Identifier: CA2609823213

Gene: POLR3A

Linked Data

• gnomAD v4: 10-78010055-T-TTCAATTTTAAAATATTTTAGTATATGTGCTGCCGAAGCGAGCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78010069_78010070insTTTTAGTATATGTGCTGCCGAAGCGAGCACATCAATTTTAAAATA , CM000672.2:g.78010069_78010070insTTTTAGTATATGTGCTGCCGAAGCGAGCACATCAATTTTAAAATA	GRCh38
NC_000010.10:g.79769827_79769828insTTTTAGTATATGTGCTGCCGAAGCGAGCACATCAATTTTAAAATA , CM000672.1:g.79769827_79769828insTTTTAGTATATGTGCTGCCGAAGCGAGCACATCAATTTTAAAATA	GRCh37
NC_000010.9:g.79439833_79439834insTTTTAGTATATGTGCTGCCGAAGCGAGCACATCAATTTTAAAATA	NCBI36
NG_029648.1:g.24485_24486insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1222-65_1222-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000698729.1:n.2768-65_2768-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000698730.1:n.2768-65_2768-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000698731.1:c.1502-65_1502-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA	ENSP00000513898.1:n.1502-65_1502-64insTGTGCTCGCTTCGGCAGCACATA...
ENST00000698732.1:c.*504-65_*504-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA	ENSP00000513899.1:n.*504-65_*504-64insTGTGCTCGCTTCGGCAGCACATA...
ENST00000698733.1:c.*830-65_*830-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA	ENSP00000513900.1:n.*830-65_*830-64insTGTGCTCGCTTCGGCAGCACATA...
ENST00000698734.1:c.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA	ENSP00000513901.1:n.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATA...
ENST00000698735.1:n.1758-65_1758-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000698736.1:n.1758-65_1758-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000698737.1:n.1758-65_1758-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000698738.1:n.1758-65_1758-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000698739.1:n.1758-65_1758-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
ENST00000372371.8:c.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA MANE Select	ENSP00000361446.3:n.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATA...
ENST00000372371.7:c.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA	ENSP00000361446.3:n.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATA...
ENST00000473588.2:c.445-65_445-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA
NM_007055.3:c.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA	NP_008986.2:n.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATATACTAA...
NM_007055.4:c.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATATACTAAAATATTTTAAAATTGA MANE Select	NP_008986.2:n.1643-65_1643-64insTGTGCTCGCTTCGGCAGCACATATACTAA...