Canonical Allele Identifier: CA2678896519

Gene: RSPH9 POLR1C

Linked Data

• gnomAD v4: 6-43650383-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650386_43650387del , CM000668.2:g.43650386_43650387del	GRCh38
NC_000006.11:g.43618123_43618124del , CM000668.1:g.43618123_43618124del	GRCh37
NC_000006.10:g.43726101_43726102del	NCBI36
NG_023436.1:g.10357_10358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.239_240del (RSPH9) MANE Select	ENSP00000361236.4:p.Thr80ArgfsTer?
ENST00000372163.4:c.239_240del (RSPH9)	ENSP00000361236.4:p.Thr80ArgfsTer?
ENST00000372165.8:c.239_240del (RSPH9)	ENSP00000361238.4:p.Thr80ArgfsTer?
NM_001193341.1:c.239_240del (RSPH9)	NP_001180270.1:p.Thr80ArgfsTer?
NM_152732.4:c.239_240del (RSPH9)	NP_689945.2:p.Thr80ArgfsTer?
XM_005248901.2:c.239_240del (RSPH9)	XP_005248958.1:p.Thr80ArgfsTer?
XM_006715014.1:c.227+5061_227+5062del (RSPH9)	XP_006715077.1:n.227+5061_227+5062del
XM_011514356.1:c.239_240del (RSPH9)	XP_011512658.1:p.Thr80ArgfsTer?
XR_926099.1:n.274_275del (RSPH9)
XM_005248901.3:c.239_240del (RSPH9)	XP_005248958.1:p.Thr80ArgfsTer?
XR_002956268.1:n.281_282del (RSPH9)
XR_002956269.1:n.296+5061_296+5062del (RSPH9)
XR_926099.2:n.281_282del (RSPH9)
NM_152732.5:c.239_240del (RSPH9) MANE Select	NP_689945.2:p.Thr80ArgfsTer?
NM_001193341.2:c.239_240del (RSPH9)	NP_001180270.1:p.Thr80ArgfsTer?
NM_001318876.2:c.945+121115_945+121116del (POLR1C)	NP_001305805.1:n.945+121115_945+121116del