Canonical Allele Identifier: CA10635898
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 315747
ClinVar RCV Id: RCV000320897

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38352258_38352259del , CM000677.2:g.38352258_38352259del GRCh38
NC_000015.9:g.38644459_38644460del , CM000677.1:g.38644459_38644460del GRCh37
NC_000015.8:g.36431751_36431752del NCBI36
NG_008980.1:g.104408_104409del

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.*594_*595del MANE Select ENSP00000299084.4:p.=
ENST00000299084.8:c.*594_*595del ENSP00000299084.4:p.=
NM_152594.2:c.*594_*595del NP_689807.1:p.=
XM_005254202.2:c.*594_*595del XP_005254259.1:p.=
XM_005254203.3:c.*594_*595del XP_005254260.1:p.=
XM_011521288.1:c.*594_*595del XP_011519590.1:p.=
XM_011521289.1:c.*594_*595del XP_011519591.1:p.=
XM_011521290.1:c.*594_*595del XP_011519592.1:p.=
XM_005254202.3:c.*594_*595del XP_005254259.1:p.=
XM_011521289.3:c.*594_*595del XP_011519591.1:p.=
NM_152594.3:c.*594_*595del MANE Select NP_689807.1:p.=