Canonical Allele Identifier: CA2678896557

Gene: RSPH9 POLR1C

Linked Data

• gnomAD v4: 6-43650470-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650472_43650473dup , CM000668.2:g.43650472_43650473dup	GRCh38
NC_000006.11:g.43618209_43618210dup , CM000668.1:g.43618209_43618210dup	GRCh37
NC_000006.10:g.43726187_43726188dup	NCBI36
NG_023436.1:g.10443_10444dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.325_326dup (RSPH9) MANE Select	ENSP00000361236.4:p.Glu110ThrfsTer11
ENST00000372163.4:c.325_326dup (RSPH9)	ENSP00000361236.4:p.Glu110ThrfsTer11
ENST00000372165.8:c.325_326dup (RSPH9)	ENSP00000361238.4:p.Glu110ThrfsTer11
NM_001193341.1:c.325_326dup (RSPH9)	NP_001180270.1:p.Glu110ThrfsTer11
NM_152732.4:c.325_326dup (RSPH9)	NP_689945.2:p.Glu110ThrfsTer11
XM_005248901.2:c.325_326dup (RSPH9)	XP_005248958.1:p.Glu110ThrfsTer11
XM_006715014.1:c.228-5090_228-5089dup (RSPH9)	XP_006715077.1:n.228-5090_228-5089dup
XM_011514356.1:c.325_326dup (RSPH9)	XP_011512658.1:p.Glu110ThrfsTer11
XR_926099.1:n.360_361dup (RSPH9)
XM_005248901.3:c.325_326dup (RSPH9)	XP_005248958.1:p.Glu110ThrfsTer11
XR_002956268.1:n.367_368dup (RSPH9)
XR_002956269.1:n.297-5090_297-5089dup (RSPH9)
XR_926099.2:n.367_368dup (RSPH9)
NM_152732.5:c.325_326dup (RSPH9) MANE Select	NP_689945.2:p.Glu110ThrfsTer11
NM_001193341.2:c.325_326dup (RSPH9)	NP_001180270.1:p.Glu110ThrfsTer11
NM_001318876.2:c.945+121201_945+121202dup (POLR1C)	NP_001305805.1:n.945+121201_945+121202dup