Canonical Allele Identifier: CA2680118062

Gene: RSPH4A

Linked Data

• gnomAD v4: 6-116627583-CATTTGTCTTATTGATAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116627588_116627604del , CM000668.2:g.116627588_116627604del	GRCh38
NC_000006.11:g.116948751_116948767del , CM000668.1:g.116948751_116948767del	GRCh37
NC_000006.10:g.117055444_117055460del	NCBI36
NG_012934.1:g.16110_16126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.922-41_922-25del MANE Select	ENSP00000229554.5:n.922-41_922-25del
ENST00000229554.9:c.922-41_922-25del	ENSP00000229554.5:n.922-41_922-25del
ENST00000368580.4:c.922-1979_922-1963del	ENSP00000357569.4:n.922-1979_922-1963del
ENST00000368581.8:c.922-41_922-25del	ENSP00000357570.4:n.922-41_922-25del
NM_001010892.2:c.922-41_922-25del	NP_001010892.1:n.922-41_922-25del
NM_001161664.1:c.922-41_922-25del	NP_001155136.1:n.922-41_922-25del
XM_006715469.2:c.922-41_922-25del	XP_006715532.1:n.922-41_922-25del
XM_011535791.1:c.922-41_922-25del	XP_011534093.1:n.922-41_922-25del
XM_011535792.1:c.922-41_922-25del	XP_011534094.1:n.922-41_922-25del
XR_942416.1:n.3573-41_3573-25del
XM_017010826.1:c.922-41_922-25del	XP_016866315.1:n.922-41_922-25del
NM_001010892.3:c.922-41_922-25del MANE Select	NP_001010892.1:n.922-41_922-25del
NM_001161664.2:c.922-41_922-25del	NP_001155136.1:n.922-41_922-25del