Canonical Allele Identifier: CA894038371

Gene: POLR1A

Linked Data

• dbSNP Id: rs1315365547
• gnomAD v3: 2-86030023-GGAGGCAGAC-G
• gnomAD v4: 2-86030023-GGAGGCAGAC-G
• MyVariant Identifiers: chr2:g.86257147_86257155del (hg19) ; chr2:g.86030024_86030032del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86030028_86030036del , CM000664.2:g.86030028_86030036del	GRCh38
NC_000002.11:g.86257151_86257159del , CM000664.1:g.86257151_86257159del	GRCh37
NC_000002.10:g.86110662_86110670del	NCBI36
NG_050742.2:g.81124_81132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.4779+164_4779+172del MANE Select	ENSP00000263857.6:n.4779+164_4779+172del
ENST00000263857.10:c.4779+164_4779+172del	ENSP00000263857.6:n.4779+164_4779+172del
ENST00000409681.1:c.4596+164_4596+172del	ENSP00000386300.1:n.4596+164_4596+172del
NM_015425.3:c.4779+164_4779+172del	NP_056240.2:n.4779+164_4779+172del
XM_006711983.2:c.4455+164_4455+172del	XP_006712046.1:n.4455+164_4455+172del
NM_015425.5:c.4779+164_4779+172del	NP_056240.2:n.4779+164_4779+172del
NM_015425.6:c.4779+164_4779+172del MANE Select	NP_056240.2:n.4779+164_4779+172del