Canonical Allele Identifier: CA10583236

Gene: SPRED1

Linked Data

• ClinVar Variation Id: 241989
• ClinVar RCV Id: RCV000226597 ; RCV002243922
• dbSNP Id: rs878855228
• gnomAD v4: 15-38351477-CAG-C
• MyVariant Identifiers: chr15:g.38643681_38643682del (hg19) ; chr15:g.38351480_38351481del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.38351480_38351481del , CM000677.2:g.38351480_38351481del	GRCh38
NC_000015.9:g.38643681_38643682del , CM000677.1:g.38643681_38643682del	GRCh37
NC_000015.8:g.36430973_36430974del	NCBI36
NG_008980.1:g.103630_103631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299084.9:c.1151_1152del MANE Select	ENSP00000299084.4:p.Glu384GlyfsTer5
ENST00000299084.8:c.1151_1152del	ENSP00000299084.4:p.Glu384GlyfsTer5
NM_152594.2:c.1151_1152del	NP_689807.1:p.Glu384GlyfsTer5
XM_005254202.2:c.1187_1188del	XP_005254259.1:p.Glu396GlyfsTer5
XM_005254203.3:c.929_930del	XP_005254260.1:p.Glu310GlyfsTer5
XM_011521288.1:c.1088_1089del	XP_011519590.1:p.Glu363GlyfsTer5
XM_011521289.1:c.1088_1089del	XP_011519591.1:p.Glu363GlyfsTer5
XM_011521290.1:c.1088_1089del	XP_011519592.1:p.Glu363GlyfsTer5
XM_005254202.3:c.1187_1188del	XP_005254259.1:p.Glu396GlyfsTer5
XM_011521289.3:c.1088_1089del	XP_011519591.1:p.Glu363GlyfsTer5
NM_152594.3:c.1151_1152del MANE Select	NP_689807.1:p.Glu384GlyfsTer5