Canonical Allele Identifier: CA1624619315

Gene: RSPH9 POLR1C

Linked Data

• ClinVar Variation Id: 2182143
• ClinVar RCV Id: RCV002596016
• dbSNP Id: rs1771335561

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650542del , CM000668.2:g.43650542del	GRCh38
NC_000006.11:g.43618279del , CM000668.1:g.43618279del	GRCh37
NC_000006.10:g.43726257del	NCBI36
NG_023436.1:g.10513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.393+2del (RSPH9) MANE Select	ENSP00000361236.4:n.393+2del
ENST00000372163.4:c.393+2del (RSPH9)	ENSP00000361236.4:n.393+2del
ENST00000372165.8:c.393+2del (RSPH9)	ENSP00000361238.4:n.393+2del
NM_001193341.1:c.393+2del (RSPH9)	NP_001180270.1:n.393+2del
NM_152732.4:c.393+2del (RSPH9)	NP_689945.2:n.393+2del
XM_005248901.2:c.393+2del (RSPH9)	XP_005248958.1:n.393+2del
XM_006715014.1:c.228-5020del (RSPH9)	XP_006715077.1:n.228-5020del
XM_011514356.1:c.393+2del (RSPH9)	XP_011512658.1:n.393+2del
XR_926099.1:n.428+2del (RSPH9)
XM_005248901.3:c.393+2del (RSPH9)	XP_005248958.1:n.393+2del
XR_002956268.1:n.435+2del (RSPH9)
XR_002956269.1:n.297-5020del (RSPH9)
XR_926099.2:n.435+2del (RSPH9)
NM_152732.5:c.393+2del (RSPH9) MANE Select	NP_689945.2:n.393+2del
NM_001193341.2:c.393+2del (RSPH9)	NP_001180270.1:n.393+2del
NM_001318876.2:c.945+121271del (POLR1C)	NP_001305805.1:n.945+121271del