Canonical Allele Identifier: CA666519
Gene: ALPL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371067

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21564090del , CM000663.2:g.21564090del GRCh38
NC_000001.9:g.21763170del NCBI36
NC_000001.10:g.21890583del , CM000663.1:g.21890583del GRCh37
NG_008940.1:g.59726del

Transcript Alleles

HGVS Amino-acid change
ENST00000374832.5:c.522del ENSP00000363965.1:p.Ser175AlafsTer23
ENST00000374840.7:c.522del ENSP00000363973.3:p.Ser175AlafsTer23
ENST00000468526.1:n.582del
ENST00000539907.5:c.291del ENSP00000437674.1:p.Ser98AlafsTer23
ENST00000540617.5:c.357del ENSP00000442672.1:p.Ser120AlafsTer23
NM_000478.4:c.522del VV NP_000469.3:p.Ser175AlafsTer23
NM_001127501.2:c.357del VV NP_001120973.2:p.Ser120AlafsTer23
NM_001177520.1:c.291del VV NP_001170991.1:p.Ser98AlafsTer23
XM_005245818.1:c.522del XP_005245875.1:p.Ser175AlafsTer23
XM_005245820.2:c.522del XP_005245877.1:p.Ser175AlafsTer23
XM_006710546.1:c.522del XP_006710609.1:p.Ser175AlafsTer23
NM_000478.5:c.522del VV
NM_001127501.3:c.357del VV
NM_001177520.2:c.291del VV
XM_006710546.3:c.522del
XM_017000903.1:n.366del XP_016856392.1:p.Ser123AlafsTer23