Canonical Allele Identifier: CA2680118167

Gene: RSPH4A

Linked Data

• gnomAD v4: 6-116627684-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116627685del , CM000668.2:g.116627685del	GRCh38
NC_000006.11:g.116948848del , CM000668.1:g.116948848del	GRCh37
NC_000006.10:g.117055541del	NCBI36
NG_012934.1:g.16207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.978del MANE Select	ENSP00000229554.5:p.Val327LeufsTer?
ENST00000229554.9:c.978del	ENSP00000229554.5:p.Val327LeufsTer?
ENST00000368580.4:c.922-1882del	ENSP00000357569.4:n.922-1882del
ENST00000368581.8:c.978del	ENSP00000357570.4:p.Val327LeufsTer?
NM_001010892.2:c.978del	NP_001010892.1:p.Val327LeufsTer?
NM_001161664.1:c.978del	NP_001155136.1:p.Val327LeufsTer?
XM_006715469.2:c.978del	XP_006715532.1:p.Val327LeufsTer?
XM_011535791.1:c.978del	XP_011534093.1:p.Val327LeufsTer?
XM_011535792.1:c.978del	XP_011534094.1:p.Val327LeufsTer?
XR_942416.1:n.3629del
XM_017010826.1:c.978del	XP_016866315.1:p.Val327LeufsTer?
NM_001010892.3:c.978del MANE Select	NP_001010892.1:p.Val327LeufsTer?
NM_001161664.2:c.978del	NP_001155136.1:p.Val327LeufsTer?