Canonical Allele Identifier: CA1267041183
Gene: POLR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030023_86030032delinsGGAGGCAGAC , CM000664.2:g.86030023_86030032delinsGGAGGCAGAC GRCh38
NC_000002.11:g.86257146_86257155delinsGGAGGCAGAC , CM000664.1:g.86257146_86257155delinsGGAGGCAGAC GRCh37
NC_000002.10:g.86110657_86110666delinsGGAGGCAGAC NCBI36
NG_050742.2:g.81124_81133delinsGTCTGCCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+164_4779+173delinsGTCTGCCTCC MANE Select ENSP00000263857.6:n.4779+164_4779+173delinsGTCTGCCTCC
ENST00000263857.10:c.4779+164_4779+173delinsGTCTGCCTCC ENSP00000263857.6:n.4779+164_4779+173delinsGTCTGCCTCC
ENST00000409681.1:c.4596+164_4596+173delinsGTCTGCCTCC ENSP00000386300.1:n.4596+164_4596+173delinsGTCTGCCTCC
NM_015425.3:c.4779+164_4779+173delinsGTCTGCCTCC NP_056240.2:n.4779+164_4779+173delinsGTCTGCCTCC
XM_006711983.2:c.4455+164_4455+173delinsGTCTGCCTCC XP_006712046.1:n.4455+164_4455+173delinsGTCTGCCTCC
NM_015425.5:c.4779+164_4779+173delinsGTCTGCCTCC NP_056240.2:n.4779+164_4779+173delinsGTCTGCCTCC
NM_015425.6:c.4779+164_4779+173delinsGTCTGCCTCC MANE Select NP_056240.2:n.4779+164_4779+173delinsGTCTGCCTCC