Canonical Allele Identifier: CA2585795654
Gene: POLR1G HGNC NCBI

Linked Data

gnomAD v4: 19-45406904-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45406905del , CM000681.2:g.45406905del GRCh38
NC_000019.9:g.45910163del , CM000681.1:g.45910163del GRCh37
NC_000019.8:g.50602003del NCBI36
NG_015839.2:g.76924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.22+187del MANE Select ENSP00000310966.3:n.22+187del
ENST00000309424.7:c.22+187del ENSP00000310966.3:n.22+187del
ENST00000589804.1:c.28+181del ENSP00000465099.1:n.28+181del
ENST00000590794.1:c.20+187del
ENST00000592852.1:c.-701del ENSP00000467771.1:n.-701del
NM_001297590.1:c.28+181del NP_001284519.1:n.28+181del
NM_012099.1:c.22+187del NP_036231.1:n.22+187del
NM_001297590.2:c.28+181del NP_001284519.1:n.28+181del
NM_012099.2:c.22+187del NP_036231.1:n.22+187del
NM_001297590.3:c.28+181del NP_001284519.1:n.28+181del
NM_012099.3:c.22+187del MANE Select NP_036231.1:n.22+187del
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