Canonical Allele Identifier: CA594710576

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1595465
• ClinVar RCV Id: RCV002126731
• dbSNP Id: rs1467396068
• gnomAD v2: 10-79764653-AGTTGG-A
• gnomAD v3: 10-78004895-AGTTGG-A
• gnomAD v4: 10-78004895-AGTTGG-A
• MyVariant Identifiers: chr10:g.79764654_79764658del (hg19) ; chr10:g.78004896_78004900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004896_78004900del , CM000672.2:g.78004896_78004900del	GRCh38
NC_000010.10:g.79764654_79764658del , CM000672.1:g.79764654_79764658del	GRCh37
NC_000010.9:g.79434660_79434664del	NCBI36
NG_029648.1:g.29641_29645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1135-12_1135-8del
ENST00000698728.1:n.1654-12_1654-8del
ENST00000698729.1:n.3200-12_3200-8del
ENST00000698730.1:n.3200-12_3200-8del
ENST00000698731.1:c.1934-12_1934-8del	ENSP00000513898.1:n.1934-12_1934-8del
ENST00000698732.1:c.*936-12_*936-8del	ENSP00000513899.1:n.*936-12_*936-8del
ENST00000698733.1:c.*1262-12_*1262-8del	ENSP00000513900.1:n.*1262-12_*1262-8del
ENST00000698734.1:c.2075-12_2075-8del	ENSP00000513901.1:n.2075-12_2075-8del
ENST00000698735.1:n.2190-12_2190-8del
ENST00000698736.1:n.2190-12_2190-8del
ENST00000698737.1:n.2190-12_2190-8del
ENST00000698738.1:n.2190-12_2190-8del
ENST00000698739.1:n.2190-12_2190-8del
ENST00000372371.8:c.2075-12_2075-8del MANE Select	ENSP00000361446.3:n.2075-12_2075-8del
ENST00000372371.7:c.2075-12_2075-8del	ENSP00000361446.3:n.2075-12_2075-8del
ENST00000472014.5:n.297-12_297-8del
ENST00000473588.2:c.738-12_738-8del
NM_007055.3:c.2075-12_2075-8del	NP_008986.2:n.2075-12_2075-8del
NM_007055.4:c.2075-12_2075-8del MANE Select	NP_008986.2:n.2075-12_2075-8del