Canonical Allele Identifier: CA2697554338
Gene: SPRED1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2742105
ClinVar RCV Id: RCV003497588

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351600_38351601del , CM000677.2:g.38351600_38351601del GRCh38
NC_000015.9:g.38643801_38643802del , CM000677.1:g.38643801_38643802del GRCh37
NC_000015.8:g.36431093_36431094del NCBI36
NG_008980.1:g.103750_103751del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.1271_1272del MANE Select ENSP00000299084.4:p.Arg424AsnfsTer7
ENST00000299084.8:c.1271_1272del ENSP00000299084.4:p.Arg424AsnfsTer7
NM_152594.2:c.1271_1272del NP_689807.1:p.Arg424AsnfsTer7
XM_005254202.2:c.1307_1308del XP_005254259.1:p.Arg436AsnfsTer7
XM_005254203.3:c.1049_1050del XP_005254260.1:p.Arg350AsnfsTer7
XM_011521288.1:c.1208_1209del XP_011519590.1:p.Arg403AsnfsTer7
XM_011521289.1:c.1208_1209del XP_011519591.1:p.Arg403AsnfsTer7
XM_011521290.1:c.1208_1209del XP_011519592.1:p.Arg403AsnfsTer7
XM_005254202.3:c.1307_1308del XP_005254259.1:p.Arg436AsnfsTer7
XM_011521289.3:c.1208_1209del XP_011519591.1:p.Arg403AsnfsTer7
NM_152594.3:c.1271_1272del MANE Select NP_689807.1:p.Arg424AsnfsTer7