Canonical Allele Identifier: CA658761266
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38351618_38351627del , CM000677.2:g.38351618_38351627del GRCh38
NC_000015.9:g.38643819_38643828del , CM000677.1:g.38643819_38643828del GRCh37
NC_000015.8:g.36431111_36431120del NCBI36
NG_008980.1:g.103768_103777del

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.1289_1298del MANE Select ENSP00000299084.4:p.Gly430ValfsTer29
ENST00000299084.8:c.1289_1298del ENSP00000299084.4:p.Gly430ValfsTer29
NM_152594.2:c.1289_1298del NP_689807.1:p.Gly430ValfsTer29
XM_005254202.2:c.1325_1334del XP_005254259.1:p.Gly442ValfsTer29
XM_005254203.3:c.1067_1076del XP_005254260.1:p.Gly356ValfsTer29
XM_011521288.1:c.1226_1235del XP_011519590.1:p.Gly409ValfsTer29
XM_011521289.1:c.1226_1235del XP_011519591.1:p.Gly409ValfsTer29
XM_011521290.1:c.1226_1235del XP_011519592.1:p.Gly409ValfsTer29
XM_005254202.3:c.1325_1334del XP_005254259.1:p.Gly442ValfsTer29
XM_011521289.3:c.1226_1235del XP_011519591.1:p.Gly409ValfsTer29
NM_152594.3:c.1289_1298del MANE Select NP_689807.1:p.Gly430ValfsTer29