Canonical Allele Identifier: CA894042708
Gene: POLR1A HGNC NCBI

Linked Data

dbSNP Id: rs1344128317
gnomAD v4: 2-86040315-ACC-A
MyVariant Identifiers: chr2:g.86267439_86267440del (hg19) chr2:g.86040316_86040317del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86040319_86040320del , CM000664.2:g.86040319_86040320del GRCh38
NC_000002.11:g.86267442_86267443del , CM000664.1:g.86267442_86267443del GRCh37
NC_000002.10:g.86120953_86120954del NCBI36
NG_050742.2:g.70839_70840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.3740+75_3740+76del MANE Select ENSP00000263857.6:n.3740+75_3740+76del
ENST00000263857.10:c.3740+75_3740+76del ENSP00000263857.6:n.3740+75_3740+76del
ENST00000409681.1:c.3740+75_3740+76del ENSP00000386300.1:n.3740+75_3740+76del
ENST00000462078.1:n.128+75_128+76del
NM_015425.3:c.3740+75_3740+76del NP_056240.2:n.3740+75_3740+76del
XM_006711983.2:c.3416+75_3416+76del XP_006712046.1:n.3416+75_3416+76del
NM_015425.5:c.3740+75_3740+76del NP_056240.2:n.3740+75_3740+76del
NM_015425.6:c.3740+75_3740+76del MANE Select NP_056240.2:n.3740+75_3740+76del
Search 100 bp 5'
Search 100 bp 3'