Canonical Allele Identifier: CA2580613792

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 1334198
• ClinVar RCV Id: RCV001813613
• dbSNP Id: rs2141016305
• gnomAD v4: 15-38351252-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351255_38351256del , CM000677.2:g.38351255_38351256del	GRCh38
NC_000015.9:g.38643456_38643457del , CM000677.1:g.38643456_38643457del	GRCh37
NC_000015.8:g.36430748_36430749del	NCBI36
NG_008980.1:g.103405_103406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.926_927del MANE Select	ENSP00000299084.4:p.Val309GlyfsTer3
ENST00000299084.8:c.926_927del	ENSP00000299084.4:p.Val309GlyfsTer3
NM_152594.2:c.926_927del	NP_689807.1:p.Val309GlyfsTer3
XM_005254202.2:c.962_963del	XP_005254259.1:p.Val321GlyfsTer3
XM_005254203.3:c.704_705del	XP_005254260.1:p.Val235GlyfsTer3
XM_011521288.1:c.863_864del	XP_011519590.1:p.Val288GlyfsTer3
XM_011521289.1:c.863_864del	XP_011519591.1:p.Val288GlyfsTer3
XM_011521290.1:c.863_864del	XP_011519592.1:p.Val288GlyfsTer3
XM_005254202.3:c.962_963del	XP_005254259.1:p.Val321GlyfsTer3
XM_011521289.3:c.863_864del	XP_011519591.1:p.Val288GlyfsTer3
NM_152594.3:c.926_927del MANE Select	NP_689807.1:p.Val309GlyfsTer3