Canonical Allele Identifier: CA915946532

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 642469
• ClinVar RCV Id: RCV000795942
• dbSNP Id: rs1595763928

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351480del , CM000677.2:g.38351480del	GRCh38
NC_000015.9:g.38643681del , CM000677.1:g.38643681del	GRCh37
NC_000015.8:g.36430973del	NCBI36
NG_008980.1:g.103630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1151del MANE Select	ENSP00000299084.4:p.Glu384GlyfsTer22
ENST00000299084.8:c.1151del	ENSP00000299084.4:p.Glu384GlyfsTer22
NM_152594.2:c.1151del	NP_689807.1:p.Glu384GlyfsTer22
XM_005254202.2:c.1187del	XP_005254259.1:p.Glu396GlyfsTer22
XM_005254203.3:c.929del	XP_005254260.1:p.Glu310GlyfsTer22
XM_011521288.1:c.1088del	XP_011519590.1:p.Glu363GlyfsTer22
XM_011521289.1:c.1088del	XP_011519591.1:p.Glu363GlyfsTer22
XM_011521290.1:c.1088del	XP_011519592.1:p.Glu363GlyfsTer22
XM_005254202.3:c.1187del	XP_005254259.1:p.Glu396GlyfsTer22
XM_011521289.3:c.1088del	XP_011519591.1:p.Glu363GlyfsTer22
NM_152594.3:c.1151del MANE Select	NP_689807.1:p.Glu384GlyfsTer22