Canonical Allele Identifier: CA746832452

Gene: RSPO4

Linked Data

• dbSNP Id: rs1274755850
• gnomAD v4: 20-967878-GA-G
• MyVariant Identifiers: chr20:g.948522del (hg19) ; chr20:g.967879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967881del , CM000682.2:g.967881del	GRCh38
NC_000020.10:g.948524del , CM000682.1:g.948524del	GRCh37
NC_000020.9:g.896524del	NCBI36
NG_013043.1:g.39386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.268+71del MANE Select	ENSP00000217260.4:n.268+71del
ENST00000217260.8:c.268+71del	ENSP00000217260.4:n.268+71del
ENST00000400634.2:c.268+71del	ENSP00000383475.2:n.268+71del
NM_001029871.3:c.268+71del	NP_001025042.2:n.268+71del
NM_001040007.2:c.268+71del	NP_001035096.1:n.268+71del
XM_011529232.1:c.316+71del	XP_011527534.1:n.316+71del
XM_011529233.1:c.316+71del	XP_011527535.1:n.316+71del
XR_937068.1:n.388+71del
XR_937069.1:n.383+71del
XM_017027839.1:c.268+71del	XP_016883328.1:n.268+71del
NM_001029871.4:c.268+71del MANE Select	NP_001025042.2:n.268+71del
NM_001040007.3:c.268+71del	NP_001035096.1:n.268+71del