Canonical Allele Identifier: CA634326317

Gene: RSPO4

Linked Data

• dbSNP Id: rs748482022
• gnomAD v2: 20-948817-GGAGA-G
• gnomAD v4: 20-968174-GGAGA-G
• MyVariant Identifiers: chr20:g.948818_948821del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.968181_968184del , CM000682.2:g.968181_968184del	GRCh38
NC_000020.10:g.948824_948827del , CM000682.1:g.948824_948827del	GRCh37
NC_000020.9:g.896824_896827del	NCBI36
NG_013043.1:g.39087_39090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217260.9:c.80-40_80-37del MANE Select	ENSP00000217260.4:n.80-40_80-37del
ENST00000217260.8:c.80-40_80-37del	ENSP00000217260.4:n.80-40_80-37del
ENST00000400634.2:c.80-40_80-37del	ENSP00000383475.2:n.80-40_80-37del
NM_001029871.3:c.80-40_80-37del	NP_001025042.2:n.80-40_80-37del
NM_001040007.2:c.80-40_80-37del	NP_001035096.1:n.80-40_80-37del
XM_011529232.1:c.128-40_128-37del	XP_011527534.1:n.128-40_128-37del
XM_011529233.1:c.128-40_128-37del	XP_011527535.1:n.128-40_128-37del
XR_937068.1:n.200-40_200-37del
XR_937069.1:n.195-40_195-37del
XM_017027839.1:c.80-40_80-37del	XP_016883328.1:n.80-40_80-37del
NM_001029871.4:c.80-40_80-37del MANE Select	NP_001025042.2:n.80-40_80-37del
NM_001040007.3:c.80-40_80-37del	NP_001035096.1:n.80-40_80-37del