Canonical Allele Identifier: CA2573140891

Gene: RSPH9 POLR1C

Linked Data

• ClinVar Variation Id: 1344608
• ClinVar RCV Id: RCV001849609
• dbSNP Id: rs2127891310

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650391del , CM000668.2:g.43650391del	GRCh38
NC_000006.11:g.43618128del , CM000668.1:g.43618128del	GRCh37
NC_000006.10:g.43726106del	NCBI36
NG_023436.1:g.10362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.244del (RSPH9) MANE Select	ENSP00000361236.4:p.Trp82GlyfsTer18
ENST00000372163.4:c.244del (RSPH9)	ENSP00000361236.4:p.Trp82GlyfsTer18
ENST00000372165.8:c.244del (RSPH9)	ENSP00000361238.4:p.Trp82GlyfsTer18
NM_001193341.1:c.244del (RSPH9)	NP_001180270.1:p.Trp82GlyfsTer18
NM_152732.4:c.244del (RSPH9)	NP_689945.2:p.Trp82GlyfsTer18
XM_005248901.2:c.244del (RSPH9)	XP_005248958.1:p.Trp82GlyfsTer18
XM_006715014.1:c.227+5066del (RSPH9)	XP_006715077.1:n.227+5066del
XM_011514356.1:c.244del (RSPH9)	XP_011512658.1:p.Trp82GlyfsTer18
XR_926099.1:n.279del (RSPH9)
XM_005248901.3:c.244del (RSPH9)	XP_005248958.1:p.Trp82GlyfsTer18
XR_002956268.1:n.286del (RSPH9)
XR_002956269.1:n.296+5066del (RSPH9)
XR_926099.2:n.286del (RSPH9)
NM_152732.5:c.244del (RSPH9) MANE Select	NP_689945.2:p.Trp82GlyfsTer18
NM_001193341.2:c.244del (RSPH9)	NP_001180270.1:p.Trp82GlyfsTer18
NM_001318876.2:c.945+121120del (POLR1C)	NP_001305805.1:n.945+121120del