Canonical Allele Identifier: CA347545225
Gene: POLR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030178_86030181del , CM000664.2:g.86030178_86030181del GRCh38
NC_000002.11:g.86257301_86257304del , CM000664.1:g.86257301_86257304del GRCh37
NC_000002.10:g.86110812_86110815del NCBI36
NG_050742.2:g.80975_80978del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+15_4779+18del MANE Select ENSP00000263857.6:n.4779+15_4779+18del
ENST00000263857.10:c.4779+15_4779+18del ENSP00000263857.6:n.4779+15_4779+18del
ENST00000409681.1:c.4596+15_4596+18del ENSP00000386300.1:n.4596+15_4596+18del
NM_015425.3:c.4779+15_4779+18del NP_056240.2:n.4779+15_4779+18del
XM_006711983.2:c.4455+15_4455+18del XP_006712046.1:n.4455+15_4455+18del
NM_015425.5:c.4779+15_4779+18del NP_056240.2:n.4779+15_4779+18del
NM_015425.6:c.4779+15_4779+18del MANE Select NP_056240.2:n.4779+15_4779+18del