Canonical Allele Identifier: CA2627715161
Gene: SPRED1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.38299428_38299434del , CM000677.2:g.38299428_38299434del GRCh38
NC_000015.9:g.38591629_38591635del , CM000677.1:g.38591629_38591635del GRCh37
NC_000015.8:g.36378921_36378927del NCBI36
NG_008980.1:g.51578_51584del

Transcript Alleles

HGVS Amino-acid change
ENST00000299084.9:c.88_94del MANE Select ENSP00000299084.4:p.Gly30TyrfsTer8
ENST00000299084.8:c.88_94del ENSP00000299084.4:p.Gly30TyrfsTer8
ENST00000561205.1:n.426_432del
ENST00000561317.1:c.25_31del ENSP00000453680.1:p.Gly9TyrfsTer8
NM_152594.2:c.88_94del NP_689807.1:p.Gly30TyrfsTer8
XM_005254202.2:c.124_130del XP_005254259.1:p.Gly42TyrfsTer8
XM_005254203.3:c.-15-22813_-15-22807del XP_005254260.1:n.-15-22813_-15-22807del
XM_011521288.1:c.25_31del XP_011519590.1:p.Gly9TyrfsTer8
XM_011521289.1:c.25_31del XP_011519591.1:p.Gly9TyrfsTer8
XM_011521290.1:c.25_31del XP_011519592.1:p.Gly9TyrfsTer8
XM_005254202.3:c.124_130del XP_005254259.1:p.Gly42TyrfsTer8
XM_011521289.3:c.25_31del XP_011519591.1:p.Gly9TyrfsTer8
NM_152594.3:c.88_94del MANE Select NP_689807.1:p.Gly30TyrfsTer8