Canonical Allele Identifier: CA9725713

Gene: RSPO4

Linked Data

• dbSNP Id: rs768688109
• ExAC: 20:948542 A / ATGG
• gnomAD v2: 20-948542-A-ATGG
• gnomAD v3: 20-967899-A-ATGG
• gnomAD v4: 20-967899-A-ATGG
• MyVariant Identifiers: chr20:g.948542_948543insTGG (hg19) ; chr20:g.967899_967900insTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.967902_967904dup , CM000682.2:g.967902_967904dup	GRCh38
NC_000020.10:g.948545_948547dup , CM000682.1:g.948545_948547dup	GRCh37
NC_000020.9:g.896545_896547dup	NCBI36
NG_013043.1:g.39363_39365dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.268+48_268+50dup MANE Select	ENSP00000217260.4:n.268+48_268+50dup
ENST00000217260.8:c.268+48_268+50dup	ENSP00000217260.4:n.268+48_268+50dup
ENST00000400634.2:c.268+48_268+50dup	ENSP00000383475.2:n.268+48_268+50dup
NM_001029871.3:c.268+48_268+50dup	NP_001025042.2:n.268+48_268+50dup
NM_001040007.2:c.268+48_268+50dup	NP_001035096.1:n.268+48_268+50dup
XM_011529232.1:c.316+48_316+50dup	XP_011527534.1:n.316+48_316+50dup
XM_011529233.1:c.316+48_316+50dup	XP_011527535.1:n.316+48_316+50dup
XR_937068.1:n.388+48_388+50dup
XR_937069.1:n.383+48_383+50dup
XM_017027839.1:c.268+48_268+50dup	XP_016883328.1:n.268+48_268+50dup
NM_001029871.4:c.268+48_268+50dup MANE Select	NP_001025042.2:n.268+48_268+50dup
NM_001040007.3:c.268+48_268+50dup	NP_001035096.1:n.268+48_268+50dup