Canonical Allele Identifier: CA1093542689

Gene: RSPH4A

Linked Data

• gnomAD v3: 6-116617536-TCCA-T
• gnomAD v4: 6-116617536-TCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116617537_116617539del , CM000668.2:g.116617537_116617539del	GRCh38
NC_000006.11:g.116938700_116938702del , CM000668.1:g.116938700_116938702del	GRCh37
NC_000006.10:g.117045393_117045395del	NCBI36
NG_012934.1:g.6059_6061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.686+228_686+230del MANE Select	ENSP00000229554.5:n.686+228_686+230del
ENST00000229554.9:c.686+228_686+230del	ENSP00000229554.5:n.686+228_686+230del
ENST00000368580.4:c.686+228_686+230del	ENSP00000357569.4:n.686+228_686+230del
ENST00000368581.8:c.686+228_686+230del	ENSP00000357570.4:n.686+228_686+230del
NM_001010892.2:c.686+228_686+230del	NP_001010892.1:n.686+228_686+230del
NM_001161664.1:c.686+228_686+230del	NP_001155136.1:n.686+228_686+230del
XM_006715469.2:c.686+228_686+230del	XP_006715532.1:n.686+228_686+230del
XM_011535791.1:c.686+228_686+230del	XP_011534093.1:n.686+228_686+230del
XM_011535792.1:c.686+228_686+230del	XP_011534094.1:n.686+228_686+230del
XR_942416.1:n.3337+228_3337+230del
XM_017010826.1:c.686+228_686+230del	XP_016866315.1:n.686+228_686+230del
NM_001010892.3:c.686+228_686+230del MANE Select	NP_001010892.1:n.686+228_686+230del
NM_001161664.2:c.686+228_686+230del	NP_001155136.1:n.686+228_686+230del