Canonical Allele Identifier: CA666629
Gene: ALPL HGNC NCBI

Linked Data

dbSNP Id: rs771175614

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21570334del , CM000663.2:g.21570334del GRCh38
NC_000001.10:g.21896827del , CM000663.1:g.21896827del GRCh37
NC_000001.9:g.21769414del NCBI36
NG_008940.1:g.65970del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.822del MANE Select ENSP00000363973.3:p.Glu274AspfsTer3
ENST00000374830.2:c.32del
ENST00000374832.5:c.822del ENSP00000363965.1:p.Glu274AspfsTer3
ENST00000374840.7:c.822del ENSP00000363973.3:p.Glu274AspfsTer3
ENST00000539907.5:c.591del ENSP00000437674.1:p.Glu197AspfsTer3
ENST00000540617.5:c.657del ENSP00000442672.1:p.Glu219AspfsTer3
NM_000478.4:c.822del NP_000469.3:p.Glu274AspfsTer3
NM_001127501.2:c.657del NP_001120973.2:p.Glu219AspfsTer3
NM_001177520.1:c.591del NP_001170991.1:p.Glu197AspfsTer3
XM_005245818.1:c.822del XP_005245875.1:p.Glu274AspfsTer3
XM_005245820.2:c.822del XP_005245877.1:p.Glu274AspfsTer3
XM_006710546.1:c.822del XP_006710609.1:p.Glu274AspfsTer3
NM_000478.5:c.822del NP_000469.3:p.Glu274AspfsTer3
NM_001127501.3:c.657del NP_001120973.2:p.Glu219AspfsTer3
NM_001177520.2:c.591del NP_001170991.1:p.Glu197AspfsTer3
XM_006710546.3:c.822del XP_006710609.1:p.Glu274AspfsTer3
XM_017000903.1:c.666del XP_016856392.1:p.Glu222AspfsTer3
NM_000478.6:c.822del MANE Select NP_000469.3:p.Glu274AspfsTer3
NM_001127501.4:c.657del NP_001120973.2:p.Glu219AspfsTer3
NM_001177520.3:c.591del NP_001170991.1:p.Glu197AspfsTer3
NM_001369803.2:c.822del NP_001356732.1:p.Glu274AspfsTer3
NM_001369804.2:c.822del NP_001356733.1:p.Glu274AspfsTer3
NM_001369805.2:c.822del NP_001356734.1:p.Glu274AspfsTer3