Canonical Allele Identifier: CA658761217

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 547789
• ClinVar RCV Id: RCV000660291
• dbSNP Id: rs1555386651
• MyVariant Identifiers: chr15:g.38545393_38545406del (hg19) ; chr15:g.38253192_38253205del (hg38)
• PubMed: PMID:19920235

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38253192_38253205del , CM000677.2:g.38253192_38253205del	GRCh38
NC_000015.9:g.38545393_38545406del , CM000677.1:g.38545393_38545406del	GRCh37
NC_000015.8:g.36332685_36332698del	NCBI36
NG_008980.1:g.5342_5355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.7_20del MANE Select	ENSP00000299084.4:p.Glu3PhefsTer2
ENST00000299084.8:c.7_20del	ENSP00000299084.4:p.Glu3PhefsTer2
ENST00000561205.1:n.345_358del
ENST00000561317.1:c.-121_-108del	ENSP00000453680.1:n.-121_-108del
NM_152594.2:c.7_20del	NP_689807.1:p.Glu3PhefsTer2
XM_005254202.2:c.7_20del	XP_005254259.1:p.Glu3PhefsTer2
XM_005254203.3:c.-41_-28del	XP_005254260.1:n.-41_-28del
XM_005254202.3:c.7_20del	XP_005254259.1:p.Glu3PhefsTer2
XR_001751484.1:n.87+363_87+376del
NM_152594.3:c.7_20del MANE Select	NP_689807.1:p.Glu3PhefsTer2