Canonical Allele Identifier: CA1745406

Gene: POLR1A

Linked Data

• dbSNP Id: rs746526249
• ExAC: 2:86257299 CAG / C
• gnomAD v2: 2-86257299-CAG-C
• gnomAD v3: 2-86030176-CAG-C
• gnomAD v4: 2-86030176-CAG-C
• MyVariant Identifiers: chr2:g.86257300_86257301del (hg19) ; chr2:g.86030177_86030178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030177_86030178del , CM000664.2:g.86030177_86030178del	GRCh38
NC_000002.11:g.86257300_86257301del , CM000664.1:g.86257300_86257301del	GRCh37
NC_000002.10:g.86110811_86110812del	NCBI36
NG_050742.2:g.80978_80979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4779+18_4779+19del MANE Select	ENSP00000263857.6:n.4779+18_4779+19del
ENST00000263857.10:c.4779+18_4779+19del	ENSP00000263857.6:n.4779+18_4779+19del
ENST00000409681.1:c.4596+18_4596+19del	ENSP00000386300.1:n.4596+18_4596+19del
NM_015425.3:c.4779+18_4779+19del	NP_056240.2:n.4779+18_4779+19del
XM_006711983.2:c.4455+18_4455+19del	XP_006712046.1:n.4455+18_4455+19del
NM_015425.5:c.4779+18_4779+19del	NP_056240.2:n.4779+18_4779+19del
NM_015425.6:c.4779+18_4779+19del MANE Select	NP_056240.2:n.4779+18_4779+19del