Canonical Allele Identifier: CA51372151

Gene: POLR1A

Linked Data

• dbSNP Id: rs754967493
• gnomAD v2: 2-86267418-TCATTCAC-T
• gnomAD v3: 2-86040295-TCATTCAC-T
• gnomAD v4: 2-86040295-TCATTCAC-T
• MyVariant Identifiers: chr2:g.86267419_86267425del (hg19) ; chr2:g.86040296_86040302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86040296_86040302del , CM000664.2:g.86040296_86040302del	GRCh38
NC_000002.11:g.86267419_86267425del , CM000664.1:g.86267419_86267425del	GRCh37
NC_000002.10:g.86120930_86120936del	NCBI36
NG_050742.2:g.70854_70860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263857.11:c.3740+90_3740+96del MANE Select	ENSP00000263857.6:n.3740+90_3740+96del
ENST00000263857.10:c.3740+90_3740+96del	ENSP00000263857.6:n.3740+90_3740+96del
ENST00000409681.1:c.3740+90_3740+96del	ENSP00000386300.1:n.3740+90_3740+96del
ENST00000462078.1:n.128+90_129-96del
NM_015425.3:c.3740+90_3740+96del	NP_056240.2:n.3740+90_3740+96del
XM_006711983.2:c.3416+90_3416+96del	XP_006712046.1:n.3416+90_3416+96del
NM_015425.5:c.3740+90_3740+96del	NP_056240.2:n.3740+90_3740+96del
NM_015425.6:c.3740+90_3740+96del MANE Select	NP_056240.2:n.3740+90_3740+96del