Canonical Allele Identifier: CA1746356
Community Standard Title: NM_015425.6(POLR1A):c.1380+38_1380+49del
Gene: POLR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86077811_86077822del , CM000664.2:g.86077811_86077822del GRCh38
NC_000002.11:g.86304934_86304945del , CM000664.1:g.86304934_86304945del GRCh37
NC_000002.10:g.86158445_86158456del NCBI36
NG_050742.2:g.33335_33346del

Transcript Alleles

HGVS Amino-acid Change
NM_015425.6:c.1380+38_1380+49del MANE Select NP_056240.2:n.1380+38_1380+49del
ENST00000263857.11:c.1380+38_1380+49del MANE Select ENSP00000263857.6:n.1380+38_1380+49del
NM_015425.3:c.1380+38_1380+49del NP_056240.2:n.1380+38_1380+49del
NM_015425.5:c.1380+38_1380+49del NP_056240.2:n.1380+38_1380+49del
ENST00000263857.10:c.1380+38_1380+49del ENSP00000263857.6:n.1380+38_1380+49del
ENST00000409681.1:c.1380+38_1380+49del ENSP00000386300.1:n.1380+38_1380+49del
ENST00000683266.1:n.1482+38_1482+49del
ENST00000684556.1:n.1294+38_1294+49del
XM_006711983.2:c.1056+38_1056+49del XP_006712046.1:n.1056+38_1056+49del