Canonical Allele Identifier: CA1267041205
Gene: POLR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030057_86030058delinsGA , CM000664.2:g.86030057_86030058delinsGA GRCh38
NC_000002.11:g.86257180_86257181delinsGA , CM000664.1:g.86257180_86257181delinsGA GRCh37
NC_000002.10:g.86110691_86110692delinsGA NCBI36
NG_050742.2:g.81098_81099delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+138_4779+139delinsTC MANE Select ENSP00000263857.6:n.4779+138_4779+139delinsTC
ENST00000263857.10:c.4779+138_4779+139delinsTC ENSP00000263857.6:n.4779+138_4779+139delinsTC
ENST00000409681.1:c.4596+138_4596+139delinsTC ENSP00000386300.1:n.4596+138_4596+139delinsTC
NM_015425.3:c.4779+138_4779+139delinsTC NP_056240.2:n.4779+138_4779+139delinsTC
XM_006711983.2:c.4455+138_4455+139delinsTC XP_006712046.1:n.4455+138_4455+139delinsTC
NM_015425.5:c.4779+138_4779+139delinsTC NP_056240.2:n.4779+138_4779+139delinsTC
NM_015425.6:c.4779+138_4779+139delinsTC MANE Select NP_056240.2:n.4779+138_4779+139delinsTC