Canonical Allele Identifier: CA824939554

Gene: RSPH9 POLR1C

Linked Data

• dbSNP Id: rs1309392846
• gnomAD v3: 6-43650437-CTG-C
• gnomAD v4: 6-43650437-CTG-C
• MyVariant Identifiers: chr6:g.43618175_43618176del (hg19) ; chr6:g.43650438_43650439del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43650440_43650441del , CM000668.2:g.43650440_43650441del	GRCh38
NC_000006.11:g.43618177_43618178del , CM000668.1:g.43618177_43618178del	GRCh37
NC_000006.10:g.43726155_43726156del	NCBI36
NG_023436.1:g.10411_10412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.293_294del (RSPH9) MANE Select	ENSP00000361236.4:p.Val98GlyfsTer14
ENST00000372163.4:c.293_294del (RSPH9)	ENSP00000361236.4:p.Val98GlyfsTer14
ENST00000372165.8:c.293_294del (RSPH9)	ENSP00000361238.4:p.Val98GlyfsTer14
NM_001193341.1:c.293_294del (RSPH9)	NP_001180270.1:p.Val98GlyfsTer14
NM_152732.4:c.293_294del (RSPH9)	NP_689945.2:p.Val98GlyfsTer14
XM_005248901.2:c.293_294del (RSPH9)	XP_005248958.1:p.Val98GlyfsTer14
XM_006715014.1:c.227+5115_227+5116del (RSPH9)	XP_006715077.1:n.227+5115_227+5116del
XM_011514356.1:c.293_294del (RSPH9)	XP_011512658.1:p.Val98GlyfsTer14
XR_926099.1:n.328_329del (RSPH9)
XM_005248901.3:c.293_294del (RSPH9)	XP_005248958.1:p.Val98GlyfsTer14
XR_002956268.1:n.335_336del (RSPH9)
XR_002956269.1:n.296+5115_296+5116del (RSPH9)
XR_926099.2:n.335_336del (RSPH9)
NM_152732.5:c.293_294del (RSPH9) MANE Select	NP_689945.2:p.Val98GlyfsTer14
NM_001193341.2:c.293_294del (RSPH9)	NP_001180270.1:p.Val98GlyfsTer14
NM_001318876.2:c.945+121169_945+121170del (POLR1C)	NP_001305805.1:n.945+121169_945+121170del