Canonical Allele Identifier: CA2750775269
Gene: POLR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86030358_86030359insAAAAGGTTT , CM000664.2:g.86030358_86030359insAAAAGGTTT GRCh38
NC_000002.11:g.86257481_86257482insAAAAGGTTT , CM000664.1:g.86257481_86257482insAAAAGGTTT GRCh37
NC_000002.10:g.86110992_86110993insAAAAGGTTT NCBI36
NG_050742.2:g.80797_80798insAAACCTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000263857.11:c.4616_4617insAAACCTTTT MANE Select ENSP00000263857.6:p.Asp1539delinsGluAsnLeuPhe
ENST00000263857.10:c.4616_4617insAAACCTTTT ENSP00000263857.6:p.Asp1539delinsGluAsnLeuPhe
ENST00000409681.1:c.4433_4434insAAACCTTTT ENSP00000386300.1:p.Asp1478delinsGluAsnLeuPhe
NM_015425.3:c.4616_4617insAAACCTTTT NP_056240.2:p.Asp1539delinsGluAsnLeuPhe
XM_006711983.2:c.4292_4293insAAACCTTTT XP_006712046.1:p.Asp1431delinsGluAsnLeuPhe
NM_015425.5:c.4616_4617insAAACCTTTT NP_056240.2:p.Asp1539delinsGluAsnLeuPhe
NM_015425.6:c.4616_4617insAAACCTTTT MANE Select NP_056240.2:p.Asp1539delinsGluAsnLeuPhe
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