Canonical Allele Identifier: CA746832432

Gene: RSPO4

Linked Data

• dbSNP Id: rs1299151590
• gnomAD v3: 20-967830-AGT-A
• gnomAD v4: 20-967830-AGT-A
• MyVariant Identifiers: chr20:g.948474_948475del (hg19) ; chr20:g.967831_967832del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967831_967832del , CM000682.2:g.967831_967832del	GRCh38
NC_000020.10:g.948474_948475del , CM000682.1:g.948474_948475del	GRCh37
NC_000020.9:g.896474_896475del	NCBI36
NG_013043.1:g.39433_39434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.268+118_268+119del MANE Select	ENSP00000217260.4:n.268+118_268+119del
ENST00000217260.8:c.268+118_268+119del	ENSP00000217260.4:n.268+118_268+119del
ENST00000400634.2:c.268+118_268+119del	ENSP00000383475.2:n.268+118_268+119del
NM_001029871.3:c.268+118_268+119del	NP_001025042.2:n.268+118_268+119del
NM_001040007.2:c.268+118_268+119del	NP_001035096.1:n.268+118_268+119del
XM_011529232.1:c.316+118_316+119del	XP_011527534.1:n.316+118_316+119del
XM_011529233.1:c.316+118_316+119del	XP_011527535.1:n.316+118_316+119del
XR_937068.1:n.388+118_388+119del
XR_937069.1:n.383+118_383+119del
XM_017027839.1:c.268+118_268+119del	XP_016883328.1:n.268+118_268+119del
NM_001029871.4:c.268+118_268+119del MANE Select	NP_001025042.2:n.268+118_268+119del
NM_001040007.3:c.268+118_268+119del	NP_001035096.1:n.268+118_268+119del