Canonical Allele Identifier: CA915946529

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 636493
• ClinVar RCV Id: RCV000788342 ; RCV001228821
• dbSNP Id: rs1595763659

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351235_38351239del , CM000677.2:g.38351235_38351239del	GRCh38
NC_000015.9:g.38643436_38643440del , CM000677.1:g.38643436_38643440del	GRCh37
NC_000015.8:g.36430728_36430732del	NCBI36
NG_008980.1:g.103385_103389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.906_910del MANE Select	ENSP00000299084.4:p.Leu302PhefsTer9
ENST00000299084.8:c.906_910del	ENSP00000299084.4:p.Leu302PhefsTer9
NM_152594.2:c.906_910del	NP_689807.1:p.Leu302PhefsTer9
XM_005254202.2:c.942_946del	XP_005254259.1:p.Leu314PhefsTer9
XM_005254203.3:c.684_688del	XP_005254260.1:p.Leu228PhefsTer9
XM_011521288.1:c.843_847del	XP_011519590.1:p.Leu281PhefsTer9
XM_011521289.1:c.843_847del	XP_011519591.1:p.Leu281PhefsTer9
XM_011521290.1:c.843_847del	XP_011519592.1:p.Leu281PhefsTer9
XM_005254202.3:c.942_946del	XP_005254259.1:p.Leu314PhefsTer9
XM_011521289.3:c.843_847del	XP_011519591.1:p.Leu281PhefsTer9
NM_152594.3:c.906_910del MANE Select	NP_689807.1:p.Leu302PhefsTer9