Canonical Allele Identifier: CA569689642

Gene: RSPH4A

Linked Data

• gnomAD v2: 6-116938692-C-CTTTTTTTTTTTTTTTT
• gnomAD v3: 6-116617529-C-CTTTTTTTTTTTTTTTT
• gnomAD v4: 6-116617529-C-CTTTTTTTTTTTTTTTT
• MyVariant Identifiers: chr6:g.116938692_116938693insTTTTTTTTTTTTTTTT (hg19) ; chr6:g.116617529_116617530insTTTTTTTTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116617533_116617534insTTTTTTTTTTTTTTTT , CM000668.2:g.116617533_116617534insTTTTTTTTTTTTTTTT	GRCh38
NC_000006.11:g.116938696_116938697insTTTTTTTTTTTTTTTT , CM000668.1:g.116938696_116938697insTTTTTTTTTTTTTTTT	GRCh37
NC_000006.10:g.117045389_117045390insTTTTTTTTTTTTTTTT	NCBI36
NG_012934.1:g.6055_6056insTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.686+224_686+225insTTTTTTTTTTTTTTTT MANE Select	ENSP00000229554.5:n.686+224_686+225insTTTTTTTTTTTTTTTT
ENST00000229554.9:c.686+224_686+225insTTTTTTTTTTTTTTTT	ENSP00000229554.5:n.686+224_686+225insTTTTTTTTTTTTTTTT
ENST00000368580.4:c.686+224_686+225insTTTTTTTTTTTTTTTT	ENSP00000357569.4:n.686+224_686+225insTTTTTTTTTTTTTTTT
ENST00000368581.8:c.686+224_686+225insTTTTTTTTTTTTTTTT	ENSP00000357570.4:n.686+224_686+225insTTTTTTTTTTTTTTTT
NM_001010892.2:c.686+224_686+225insTTTTTTTTTTTTTTTT	NP_001010892.1:n.686+224_686+225insTTTTTTTTTTTTTTTT
NM_001161664.1:c.686+224_686+225insTTTTTTTTTTTTTTTT	NP_001155136.1:n.686+224_686+225insTTTTTTTTTTTTTTTT
XM_006715469.2:c.686+224_686+225insTTTTTTTTTTTTTTTT	XP_006715532.1:n.686+224_686+225insTTTTTTTTTTTTTTTT
XM_011535791.1:c.686+224_686+225insTTTTTTTTTTTTTTTT	XP_011534093.1:n.686+224_686+225insTTTTTTTTTTTTTTTT
XM_011535792.1:c.686+224_686+225insTTTTTTTTTTTTTTTT	XP_011534094.1:n.686+224_686+225insTTTTTTTTTTTTTTTT
XR_942416.1:n.3337+224_3337+225insTTTTTTTTTTTTTTTT
XM_017010826.1:c.686+224_686+225insTTTTTTTTTTTTTTTT	XP_016866315.1:n.686+224_686+225insTTTTTTTTTTTTTTTT
NM_001010892.3:c.686+224_686+225insTTTTTTTTTTTTTTTT MANE Select	NP_001010892.1:n.686+224_686+225insTTTTTTTTTTTTTTTT
NM_001161664.2:c.686+224_686+225insTTTTTTTTTTTTTTTT	NP_001155136.1:n.686+224_686+225insTTTTTTTTTTTTTTTT