Canonical Allele Identifier: CA569689628

Gene: RSPH4A

Linked Data

• dbSNP Id: rs1562388214
• gnomAD v2: 6-116938674-C-CT
• gnomAD v3: 6-116617511-C-CT
• gnomAD v4: 6-116617511-C-CT
• MyVariant Identifiers: chr6:g.116938674_116938675insT (hg19) ; chr6:g.116617511_116617512insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116617511_116617512insT , CM000668.2:g.116617511_116617512insT	GRCh38
NC_000006.11:g.116938674_116938675insT , CM000668.1:g.116938674_116938675insT	GRCh37
NC_000006.10:g.117045367_117045368insT	NCBI36
NG_012934.1:g.6033_6034insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.686+202_686+203insT MANE Select	ENSP00000229554.5:n.686+202_686+203insT
ENST00000229554.9:c.686+202_686+203insT	ENSP00000229554.5:n.686+202_686+203insT
ENST00000368580.4:c.686+202_686+203insT	ENSP00000357569.4:n.686+202_686+203insT
ENST00000368581.8:c.686+202_686+203insT	ENSP00000357570.4:n.686+202_686+203insT
NM_001010892.2:c.686+202_686+203insT	NP_001010892.1:n.686+202_686+203insT
NM_001161664.1:c.686+202_686+203insT	NP_001155136.1:n.686+202_686+203insT
XM_006715469.2:c.686+202_686+203insT	XP_006715532.1:n.686+202_686+203insT
XM_011535791.1:c.686+202_686+203insT	XP_011534093.1:n.686+202_686+203insT
XM_011535792.1:c.686+202_686+203insT	XP_011534094.1:n.686+202_686+203insT
XR_942416.1:n.3337+202_3337+203insT
XM_017010826.1:c.686+202_686+203insT	XP_016866315.1:n.686+202_686+203insT
NM_001010892.3:c.686+202_686+203insT MANE Select	NP_001010892.1:n.686+202_686+203insT
NM_001161664.2:c.686+202_686+203insT	NP_001155136.1:n.686+202_686+203insT