Canonical Allele Identifier: CA2499222899

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1068652
• ClinVar RCV Id: RCV001380281
• dbSNP Id: rs2141016685

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351561_38351570del , CM000677.2:g.38351561_38351570del	GRCh38
NC_000015.9:g.38643762_38643771del , CM000677.1:g.38643762_38643771del	GRCh37
NC_000015.8:g.36431054_36431063del	NCBI36
NG_008980.1:g.103711_103720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.1232_1241del MANE Select	ENSP00000299084.4:p.Ser411TyrfsTer10
ENST00000299084.8:c.1232_1241del	ENSP00000299084.4:p.Ser411TyrfsTer10
NM_152594.2:c.1232_1241del	NP_689807.1:p.Ser411TyrfsTer10
XM_005254202.2:c.1268_1277del	XP_005254259.1:p.Ser423TyrfsTer10
XM_005254203.3:c.1010_1019del	XP_005254260.1:p.Ser337TyrfsTer10
XM_011521288.1:c.1169_1178del	XP_011519590.1:p.Ser390TyrfsTer10
XM_011521289.1:c.1169_1178del	XP_011519591.1:p.Ser390TyrfsTer10
XM_011521290.1:c.1169_1178del	XP_011519592.1:p.Ser390TyrfsTer10
XM_005254202.3:c.1268_1277del	XP_005254259.1:p.Ser423TyrfsTer10
XM_011521289.3:c.1169_1178del	XP_011519591.1:p.Ser390TyrfsTer10
NM_152594.3:c.1232_1241del MANE Select	NP_689807.1:p.Ser411TyrfsTer10