Canonical Allele Identifier: CA1745407

Gene: POLR1A

Linked Data

• dbSNP Id: rs755490738
• ExAC: 2:86257302 CAG / C
• gnomAD v2: 2-86257302-CAG-C
• gnomAD v3: 2-86030179-CAG-C
• gnomAD v4: 2-86030179-CAG-C
• MyVariant Identifiers: chr2:g.86257303_86257304del (hg19) ; chr2:g.86030181_86030182del (hg38) ; chr2:g.86030180_86030181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030181_86030182del , CM000664.2:g.86030181_86030182del	GRCh38
NC_000002.11:g.86257304_86257305del , CM000664.1:g.86257304_86257305del	GRCh37
NC_000002.10:g.86110815_86110816del	NCBI36
NG_050742.2:g.80975_80976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4779+15_4779+16del MANE Select	ENSP00000263857.6:n.4779+15_4779+16del
ENST00000263857.10:c.4779+15_4779+16del	ENSP00000263857.6:n.4779+15_4779+16del
ENST00000409681.1:c.4596+15_4596+16del	ENSP00000386300.1:n.4596+15_4596+16del
NM_015425.3:c.4779+15_4779+16del	NP_056240.2:n.4779+15_4779+16del
XM_006711983.2:c.4455+15_4455+16del	XP_006712046.1:n.4455+15_4455+16del
NM_015425.5:c.4779+15_4779+16del	NP_056240.2:n.4779+15_4779+16del
NM_015425.6:c.4779+15_4779+16del MANE Select	NP_056240.2:n.4779+15_4779+16del