Canonical Allele Identifier: CA1624619529
Gene: RSPH9 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43650762_43650763delinsTG , CM000668.2:g.43650762_43650763delinsTG GRCh38
NC_000006.11:g.43618499_43618500delinsTG , CM000668.1:g.43618499_43618500delinsTG GRCh37
NC_000006.10:g.43726477_43726478delinsTG NCBI36
NG_023436.1:g.10733_10734delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000372163.5:c.393+222_393+223delinsTG (RSPH9) MANE Select ENSP00000361236.4:n.393+222_393+223delinsTG
ENST00000372163.4:c.393+222_393+223delinsTG (RSPH9) ENSP00000361236.4:n.393+222_393+223delinsTG
ENST00000372165.8:c.393+222_393+223delinsTG (RSPH9) ENSP00000361238.4:n.393+222_393+223delinsTG
NM_001193341.1:c.393+222_393+223delinsTG (RSPH9) NP_001180270.1:n.393+222_393+223delinsTG
NM_152732.4:c.393+222_393+223delinsTG (RSPH9) NP_689945.2:n.393+222_393+223delinsTG
XM_005248901.2:c.393+222_393+223delinsTG (RSPH9) XP_005248958.1:n.393+222_393+223delinsTG
XM_006715014.1:c.228-4800_228-4799delinsTG (RSPH9) XP_006715077.1:n.228-4800_228-4799delinsTG
XM_011514356.1:c.393+222_393+223delinsTG (RSPH9) XP_011512658.1:n.393+222_393+223delinsTG
XR_926099.1:n.428+222_428+223delinsTG (RSPH9)
XM_005248901.3:c.393+222_393+223delinsTG (RSPH9) XP_005248958.1:n.393+222_393+223delinsTG
XR_002956268.1:n.435+222_435+223delinsTG (RSPH9)
XR_002956269.1:n.297-4800_297-4799delinsTG (RSPH9)
XR_926099.2:n.435+222_435+223delinsTG (RSPH9)
NM_152732.5:c.393+222_393+223delinsTG (RSPH9) MANE Select NP_689945.2:n.393+222_393+223delinsTG
NM_001193341.2:c.393+222_393+223delinsTG (RSPH9) NP_001180270.1:n.393+222_393+223delinsTG
NM_001318876.2:c.945+121491_945+121492delinsTG (POLR1C) NP_001305805.1:n.945+121491_945+121492delinsTG