Canonical Allele Identifier: CA10583236
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 241989
dbSNP Id: rs878855228

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