Canonical Allele Identifier: CA2577023196
Gene: POLR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030182_86030185del , CM000664.2:g.86030182_86030185del GRCh38
NC_000002.11:g.86257305_86257308del , CM000664.1:g.86257305_86257308del GRCh37
NC_000002.10:g.86110816_86110819del NCBI36
NG_050742.2:g.80974_80977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4779+14_4779+17del MANE Select ENSP00000263857.6:n.4779+14_4779+17del
ENST00000263857.10:c.4779+14_4779+17del ENSP00000263857.6:n.4779+14_4779+17del
ENST00000409681.1:c.4596+14_4596+17del ENSP00000386300.1:n.4596+14_4596+17del
NM_015425.3:c.4779+14_4779+17del NP_056240.2:n.4779+14_4779+17del
XM_006711983.2:c.4455+14_4455+17del XP_006712046.1:n.4455+14_4455+17del
NM_015425.5:c.4779+14_4779+17del NP_056240.2:n.4779+14_4779+17del
NM_015425.6:c.4779+14_4779+17del MANE Select NP_056240.2:n.4779+14_4779+17del