Canonical Allele Identifier: CA594710648

Gene: POLR3A

Linked Data

• gnomAD v2: 10-79769707-GCT-G
• MyVariant Identifiers: chr10:g.79769708_79769709del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009951_78009952del , CM000672.2:g.78009951_78009952del	GRCh38
NC_000010.10:g.79769709_79769710del , CM000672.1:g.79769709_79769710del	GRCh37
NC_000010.9:g.79439715_79439716del	NCBI36
NG_029648.1:g.24590_24591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1262_1263del
ENST00000698729.1:n.2808_2809del
ENST00000698730.1:n.2808_2809del
ENST00000698731.1:c.1542_1543del	ENSP00000513898.1:p.Ala515GlnfsTer15
ENST00000698732.1:c.*544_*545del	ENSP00000513899.1:n.*544_*545del
ENST00000698733.1:c.*870_*871del	ENSP00000513900.1:n.*870_*871del
ENST00000698734.1:c.1683_1684del	ENSP00000513901.1:p.Ala562GlnfsTer15
ENST00000698735.1:n.1798_1799del
ENST00000698736.1:n.1798_1799del
ENST00000698737.1:n.1798_1799del
ENST00000698738.1:n.1798_1799del
ENST00000698739.1:n.1798_1799del
ENST00000372371.8:c.1683_1684del MANE Select	ENSP00000361446.3:p.Ala562GlnfsTer15
ENST00000372371.7:c.1683_1684del	ENSP00000361446.3:p.Ala562GlnfsTer15
ENST00000473588.2:c.485_486del
NM_007055.3:c.1683_1684del	NP_008986.2:p.Ala562GlnfsTer15
NM_007055.4:c.1683_1684del MANE Select	NP_008986.2:p.Ala562GlnfsTer15