Canonical Allele Identifier: CA264805

Gene: RSPH9 POLR1C

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43670922_43670924del , CM000668.2:g.43670922_43670924del	GRCh38
NC_000006.11:g.43638659_43638661del , CM000668.1:g.43638659_43638661del	GRCh37
NC_000006.10:g.43746637_43746639del	NCBI36
NG_023436.1:g.30893_30895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372163.5:c.804_806del (RSPH9) MANE Select	ENSP00000361236.4:p.Lys268del
ENST00000372163.4:c.804_806del (RSPH9)	ENSP00000361236.4:p.Lys268del
ENST00000372165.8:c.856_858del (RSPH9)	ENSP00000361238.4:p.Glu286del
NM_001193341.1:c.856_858del (RSPH9)	NP_001180270.1:p.Glu286del
NM_152732.4:c.804_806del (RSPH9)	NP_689945.2:p.Lys268del
XM_005248901.2:c.901_903del (RSPH9)	XP_005248958.1:p.Glu301del
XM_005248901.3:c.901_903del (RSPH9)	XP_005248958.1:p.Glu301del
XR_002956268.1:n.894_896del (RSPH9)
XR_002956269.1:n.804_806del (RSPH9)
NM_152732.5:c.804_806del (RSPH9) MANE Select	NP_689945.2:p.Lys268del
NM_001193341.2:c.856_858del (RSPH9)	NP_001180270.1:p.Glu286del
NM_001318876.2:c.945+141651_945+141653del (POLR1C)	NP_001305805.1:n.945+141651_945+141653del