Canonical Allele Identifier: CA1624619650
Gene: RSPH9 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43650887_43650891delinsAGAGT , CM000668.2:g.43650887_43650891delinsAGAGT GRCh38
NC_000006.11:g.43618624_43618628delinsAGAGT , CM000668.1:g.43618624_43618628delinsAGAGT GRCh37
NC_000006.10:g.43726602_43726606delinsAGAGT NCBI36
NG_023436.1:g.10858_10862delinsAGAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372163.5:c.393+347_393+351delinsAGAGT (RSPH9) MANE Select ENSP00000361236.4:n.393+347_393+351delinsAGAGT
ENST00000372163.4:c.393+347_393+351delinsAGAGT (RSPH9) ENSP00000361236.4:n.393+347_393+351delinsAGAGT
ENST00000372165.8:c.393+347_393+351delinsAGAGT (RSPH9) ENSP00000361238.4:n.393+347_393+351delinsAGAGT
NM_001193341.1:c.393+347_393+351delinsAGAGT (RSPH9) NP_001180270.1:n.393+347_393+351delinsAGAGT
NM_152732.4:c.393+347_393+351delinsAGAGT (RSPH9) NP_689945.2:n.393+347_393+351delinsAGAGT
XM_005248901.2:c.393+347_393+351delinsAGAGT (RSPH9) XP_005248958.1:n.393+347_393+351delinsAGAGT
XM_006715014.1:c.228-4675_228-4671delinsAGAGT (RSPH9) XP_006715077.1:n.228-4675_228-4671delinsAGAGT
XM_011514356.1:c.393+347_393+351delinsAGAGT (RSPH9) XP_011512658.1:n.393+347_393+351delinsAGAGT
XR_926099.1:n.428+347_428+351delinsAGAGT (RSPH9)
XM_005248901.3:c.393+347_393+351delinsAGAGT (RSPH9) XP_005248958.1:n.393+347_393+351delinsAGAGT
XR_002956268.1:n.435+347_435+351delinsAGAGT (RSPH9)
XR_002956269.1:n.297-4675_297-4671delinsAGAGT (RSPH9)
XR_926099.2:n.435+347_435+351delinsAGAGT (RSPH9)
NM_152732.5:c.393+347_393+351delinsAGAGT (RSPH9) MANE Select NP_689945.2:n.393+347_393+351delinsAGAGT
NM_001193341.2:c.393+347_393+351delinsAGAGT (RSPH9) NP_001180270.1:n.393+347_393+351delinsAGAGT
NM_001318876.2:c.945+121616_945+121620delinsAGAGT (POLR1C) NP_001305805.1:n.945+121616_945+121620delinsAGAGT