Canonical Allele Identifier: CA1093542706

Gene: RSPH4A

Linked Data

• gnomAD v3: 6-116617541-C-CTTTTTTTTTT
• gnomAD v4: 6-116617541-C-CTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116617543_116617544insTTTTTTTTTT , CM000668.2:g.116617543_116617544insTTTTTTTTTT	GRCh38
NC_000006.11:g.116938706_116938707insTTTTTTTTTT , CM000668.1:g.116938706_116938707insTTTTTTTTTT	GRCh37
NC_000006.10:g.117045399_117045400insTTTTTTTTTT	NCBI36
NG_012934.1:g.6065_6066insTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.686+234_686+235insTTTTTTTTTT MANE Select	ENSP00000229554.5:n.686+234_686+235insTTTTTTTTTT
ENST00000229554.9:c.686+234_686+235insTTTTTTTTTT	ENSP00000229554.5:n.686+234_686+235insTTTTTTTTTT
ENST00000368580.4:c.686+234_686+235insTTTTTTTTTT	ENSP00000357569.4:n.686+234_686+235insTTTTTTTTTT
ENST00000368581.8:c.686+234_686+235insTTTTTTTTTT	ENSP00000357570.4:n.686+234_686+235insTTTTTTTTTT
NM_001010892.2:c.686+234_686+235insTTTTTTTTTT	NP_001010892.1:n.686+234_686+235insTTTTTTTTTT
NM_001161664.1:c.686+234_686+235insTTTTTTTTTT	NP_001155136.1:n.686+234_686+235insTTTTTTTTTT
XM_006715469.2:c.686+234_686+235insTTTTTTTTTT	XP_006715532.1:n.686+234_686+235insTTTTTTTTTT
XM_011535791.1:c.686+234_686+235insTTTTTTTTTT	XP_011534093.1:n.686+234_686+235insTTTTTTTTTT
XM_011535792.1:c.686+234_686+235insTTTTTTTTTT	XP_011534094.1:n.686+234_686+235insTTTTTTTTTT
XR_942416.1:n.3337+234_3337+235insTTTTTTTTTT
XM_017010826.1:c.686+234_686+235insTTTTTTTTTT	XP_016866315.1:n.686+234_686+235insTTTTTTTTTT
NM_001010892.3:c.686+234_686+235insTTTTTTTTTT MANE Select	NP_001010892.1:n.686+234_686+235insTTTTTTTTTT
NM_001161664.2:c.686+234_686+235insTTTTTTTTTT	NP_001155136.1:n.686+234_686+235insTTTTTTTTTT