Canonical Allele Identifier: CA658798296

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 536697
• ClinVar RCV Id: RCV000645305
• dbSNP Id: rs1555391042

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38322323_38322324delinsGA , CM000677.2:g.38322323_38322324delinsGA	GRCh38
NC_000015.9:g.38614524_38614525delinsGA , CM000677.1:g.38614524_38614525delinsGA	GRCh37
NC_000015.8:g.36401816_36401817delinsGA	NCBI36
NG_008980.1:g.74473_74474delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.290_291delinsGA MANE Select	ENSP00000299084.4:p.Lys97Arg
ENST00000299084.8:c.290_291delinsGA	ENSP00000299084.4:p.Lys97Arg
ENST00000561205.1:n.628_629delinsGA
ENST00000561317.1:c.227_228delinsGA	ENSP00000453680.1:p.Lys76Arg
NM_152594.2:c.290_291delinsGA	NP_689807.1:p.Lys97Arg
XM_005254202.2:c.326_327delinsGA	XP_005254259.1:p.Lys109Arg
XM_005254203.3:c.68_69delinsGA	XP_005254260.1:p.Lys23Arg
XM_011521288.1:c.227_228delinsGA	XP_011519590.1:p.Lys76Arg
XM_011521289.1:c.227_228delinsGA	XP_011519591.1:p.Lys76Arg
XM_011521290.1:c.227_228delinsGA	XP_011519592.1:p.Lys76Arg
XM_005254202.3:c.326_327delinsGA	XP_005254259.1:p.Lys109Arg
XM_011521289.3:c.227_228delinsGA	XP_011519591.1:p.Lys76Arg
NM_152594.3:c.290_291delinsGA MANE Select	NP_689807.1:p.Lys97Arg