Canonical Allele Identifier: CA16040713
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 371503
ClinVar RCV Id: RCV000411021
dbSNP Id: rs1057517321
MyVariant Identifiers: chr1:g.21887171del (hg19) chr1:g.21560678del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21560678del , CM000663.2:g.21560678del GRCh38
NC_000001.10:g.21887171del , CM000663.1:g.21887171del GRCh37
NC_000001.9:g.21759758del NCBI36
NG_008940.1:g.56314del

Transcript Alleles

HGVS Amino-acid change
ENST00000374840.8:c.114del MANE Select ENSP00000363973.3:p.Lys38AsnfsTer30
ENST00000374832.5:c.114del ENSP00000363965.1:p.Lys38AsnfsTer30
ENST00000374840.7:c.114del ENSP00000363973.3:p.Lys38AsnfsTer30
ENST00000468526.1:n.174del
ENST00000539907.5:c.-2del ENSP00000437674.1:n.-2del
ENST00000540617.5:c.-52del ENSP00000442672.1:n.-52del
NM_000478.4:c.114del NP_000469.3:p.Lys38AsnfsTer30
NM_001127501.2:c.-52del NP_001120973.2:n.-52del
NM_001177520.1:c.-2del NP_001170991.1:n.-2del
XM_005245818.1:c.114del XP_005245875.1:p.Lys38AsnfsTer30
XM_005245820.2:c.114del XP_005245877.1:p.Lys38AsnfsTer30
XM_006710546.1:c.114del XP_006710609.1:p.Lys38AsnfsTer30
NM_000478.5:c.114del NP_000469.3:p.Lys38AsnfsTer30
NM_001127501.3:c.-52del NP_001120973.2:n.-52del
NM_001177520.2:c.-2del NP_001170991.1:n.-2del
XM_006710546.3:c.114del XP_006710609.1:p.Lys38AsnfsTer30
NM_000478.6:c.114del MANE Select NP_000469.3:p.Lys38AsnfsTer30
NM_001127501.4:c.-52del NP_001120973.2:n.-52del
NM_001177520.3:c.-2del NP_001170991.1:n.-2del
NM_001369803.2:c.114del NP_001356732.1:p.Lys38AsnfsTer30
NM_001369804.2:c.114del NP_001356733.1:p.Lys38AsnfsTer30
NM_001369805.2:c.114del NP_001356734.1:p.Lys38AsnfsTer30
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