Canonical Allele Identifier: CA882712495
Gene: POLR1G HGNC NCBI

Linked Data

dbSNP Id: rs1343837410
gnomAD v4: 19-45406884-TG-T
MyVariant Identifiers: chr19:g.45910143del (hg19) chr19:g.45406885del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45406890del , CM000681.2:g.45406890del GRCh38
NC_000019.9:g.45910148del , CM000681.1:g.45910148del GRCh37
NC_000019.8:g.50601988del NCBI36
NG_015839.2:g.76944del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309424.8:c.22+172del MANE Select ENSP00000310966.3:n.22+172del
ENST00000309424.7:c.22+172del ENSP00000310966.3:n.22+172del
ENST00000589804.1:c.28+166del ENSP00000465099.1:n.28+166del
ENST00000590794.1:c.20+172del
ENST00000592852.1:c.-716del ENSP00000467771.1:n.-716del
NM_001297590.1:c.28+166del NP_001284519.1:n.28+166del
NM_012099.1:c.22+172del NP_036231.1:n.22+172del
NM_001297590.2:c.28+166del NP_001284519.1:n.28+166del
NM_012099.2:c.22+172del NP_036231.1:n.22+172del
NM_001297590.3:c.28+166del NP_001284519.1:n.28+166del
NM_012099.3:c.22+172del MANE Select NP_036231.1:n.22+172del
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