Canonical Allele Identifier: CA2573053990

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1314093
• ClinVar RCV Id: RCV001771324
• dbSNP Id: rs2140978413

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38299411_38299412delinsTT , CM000677.2:g.38299411_38299412delinsTT	GRCh38
NC_000015.9:g.38591612_38591613delinsTT , CM000677.1:g.38591612_38591613delinsTT	GRCh37
NC_000015.8:g.36378904_36378905delinsTT	NCBI36
NG_008980.1:g.51561_51562delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000299084.9:c.71_72delinsTT MANE Select	ENSP00000299084.4:p.Arg24Leu
ENST00000299084.8:c.71_72delinsTT	ENSP00000299084.4:p.Arg24Leu
ENST00000561205.1:n.409_410delinsTT
ENST00000561317.1:c.8_9delinsTT	ENSP00000453680.1:p.Arg3Leu
NM_152594.2:c.71_72delinsTT	NP_689807.1:p.Arg24Leu
XM_005254202.2:c.107_108delinsTT	XP_005254259.1:p.Arg36Leu
XM_005254203.3:c.-15-22830_-15-22829delinsTT	XP_005254260.1:n.-15-22830_-15-22829delin...
XM_011521288.1:c.8_9delinsTT	XP_011519590.1:p.Arg3Leu
XM_011521289.1:c.8_9delinsTT	XP_011519591.1:p.Arg3Leu
XM_011521290.1:c.8_9delinsTT	XP_011519592.1:p.Arg3Leu
XM_005254202.3:c.107_108delinsTT	XP_005254259.1:p.Arg36Leu
XM_011521289.3:c.8_9delinsTT	XP_011519591.1:p.Arg3Leu
NM_152594.3:c.71_72delinsTT MANE Select	NP_689807.1:p.Arg24Leu