Canonical Allele Identifier: CA2586966217
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21561117_21561119del , CM000663.2:g.21561117_21561119del GRCh38
NC_000001.10:g.21887610_21887612del , CM000663.1:g.21887610_21887612del GRCh37
NC_000001.9:g.21760197_21760199del NCBI36
NG_008940.1:g.56753_56755del

Transcript Alleles

HGVS Amino-acid change
ENST00000374840.8:c.202_204del MANE Select ENSP00000363973.3:p.Thr68del
ENST00000374832.5:c.202_204del ENSP00000363965.1:p.Thr68del
ENST00000374840.7:c.202_204del ENSP00000363973.3:p.Thr68del
ENST00000468526.1:n.262_264del
ENST00000539907.5:c.66+372_66+374del ENSP00000437674.1:n.66+372_66+374del
ENST00000540617.5:c.37_39del ENSP00000442672.1:p.Thr13del
NM_000478.4:c.202_204del NP_000469.3:p.Thr68del
NM_001127501.2:c.37_39del NP_001120973.2:p.Thr13del
NM_001177520.1:c.66+372_66+374del NP_001170991.1:n.66+372_66+374del
XM_005245818.1:c.202_204del XP_005245875.1:p.Thr68del
XM_005245820.2:c.202_204del XP_005245877.1:p.Thr68del
XM_006710546.1:c.202_204del XP_006710609.1:p.Thr68del
NM_000478.5:c.202_204del NP_000469.3:p.Thr68del
NM_001127501.3:c.37_39del NP_001120973.2:p.Thr13del
NM_001177520.2:c.66+372_66+374del NP_001170991.1:n.66+372_66+374del
XM_006710546.3:c.202_204del XP_006710609.1:p.Thr68del
XM_017000903.1:c.67-21_67-19del XP_016856392.1:n.67-21_67-19del
NM_000478.6:c.202_204del MANE Select NP_000469.3:p.Thr68del
NM_001127501.4:c.37_39del NP_001120973.2:p.Thr13del
NM_001177520.3:c.66+372_66+374del NP_001170991.1:n.66+372_66+374del
NM_001369803.2:c.202_204del NP_001356732.1:p.Thr68del
NM_001369804.2:c.202_204del NP_001356733.1:p.Thr68del
NM_001369805.2:c.202_204del NP_001356734.1:p.Thr68del