Canonical Allele Identifier: CA968817823
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351068del , CM000677.2:g.38351068del GRCh38
NC_000015.9:g.38643269del , CM000677.1:g.38643269del GRCh37
NC_000015.8:g.36430561del NCBI36
NG_008980.1:g.103218del

Transcript Alleles

HGVS Amino-acid Change
ENST00000299084.9:c.739del MANE Select ENSP00000299084.4:p.Arg247GlufsTer2
ENST00000299084.8:c.739del ENSP00000299084.4:p.Arg247GlufsTer2
NM_152594.2:c.739del NP_689807.1:p.Arg247GlufsTer2
XM_005254202.2:c.775del XP_005254259.1:p.Arg259GlufsTer2
XM_005254203.3:c.517del XP_005254260.1:p.Arg173GlufsTer2
XM_011521288.1:c.676del XP_011519590.1:p.Arg226GlufsTer2
XM_011521289.1:c.676del XP_011519591.1:p.Arg226GlufsTer2
XM_011521290.1:c.676del XP_011519592.1:p.Arg226GlufsTer2
XM_005254202.3:c.775del XP_005254259.1:p.Arg259GlufsTer2
XM_011521289.3:c.676del XP_011519591.1:p.Arg226GlufsTer2
NM_152594.3:c.739del MANE Select NP_689807.1:p.Arg247GlufsTer2