Canonical Allele Identifier: CA658761273
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351029_38351032del , CM000677.2:g.38351029_38351032del GRCh38
NC_000015.9:g.38643230_38643233del , CM000677.1:g.38643230_38643233del GRCh37
NC_000015.8:g.36430522_36430525del NCBI36
NG_008980.1:g.103179_103182del

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.700_703del MANE Select ENSP00000299084.4:p.Ile234AspfsTer14
ENST00000299084.8:c.700_703del ENSP00000299084.4:p.Ile234AspfsTer14
NM_152594.2:c.700_703del NP_689807.1:p.Ile234AspfsTer14
XM_005254202.2:c.736_739del XP_005254259.1:p.Ile246AspfsTer14
XM_005254203.3:c.478_481del XP_005254260.1:p.Ile160AspfsTer14
XM_011521288.1:c.637_640del XP_011519590.1:p.Ile213AspfsTer14
XM_011521289.1:c.637_640del XP_011519591.1:p.Ile213AspfsTer14
XM_011521290.1:c.637_640del XP_011519592.1:p.Ile213AspfsTer14
XM_005254202.3:c.736_739del XP_005254259.1:p.Ile246AspfsTer14
XM_011521289.3:c.637_640del XP_011519591.1:p.Ile213AspfsTer14
NM_152594.3:c.700_703del MANE Select NP_689807.1:p.Ile234AspfsTer14