Canonical Allele Identifier: CA658825068
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547790
ClinVar RCV Id: RCV000660292
dbSNP Id: rs1555386654

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38253209del , CM000677.2:g.38253209del GRCh38
NC_000015.9:g.38545410del , CM000677.1:g.38545410del GRCh37
NC_000015.8:g.36332702del NCBI36
NG_008980.1:g.5359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.24del MANE Select ENSP00000299084.4:p.Asp9ThrfsTer13
ENST00000299084.8:c.24del ENSP00000299084.4:p.Asp9ThrfsTer13
ENST00000561205.1:n.362del
ENST00000561317.1:c.-104del ENSP00000453680.1:n.-104del
NM_152594.2:c.24del NP_689807.1:p.Asp9ThrfsTer13
XM_005254202.2:c.24del XP_005254259.1:p.Asp9ThrfsTer25
XM_005254203.3:c.-24del XP_005254260.1:n.-24del
XM_005254202.3:c.24del XP_005254259.1:p.Asp9ThrfsTer25
XR_001751484.1:n.87+358del
NM_152594.3:c.24del MANE Select NP_689807.1:p.Asp9ThrfsTer13