Canonical Allele Identifier: CA16040711
Gene: ALPL HGNC NCBI

Linked Data

ClinVar Variation Id: 370095
ClinVar RCV Id: RCV000411162 RCV000584822 RCV001255507
dbSNP Id: rs1057516230
MyVariant Identifiers: chr1:g.21880620_21880623del (hg19) chr1:g.21554127_21554130del (hg38)
PubMed: PMID:24100244
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21554127_21554130del , CM000663.2:g.21554127_21554130del GRCh38
NC_000001.10:g.21880620_21880623del , CM000663.1:g.21880620_21880623del GRCh37
NC_000001.9:g.21753207_21753210del NCBI36
NG_008940.1:g.49763_49766del

Transcript Alleles

HGVS Amino-acid change
ENST00000374840.8:c.46_49del MANE Select ENSP00000363973.3:p.Asn16ProfsTer2
ENST00000374832.5:c.46_49del ENSP00000363965.1:p.Asn16ProfsTer2
ENST00000374840.7:c.46_49del ENSP00000363973.3:p.Asn16ProfsTer2
ENST00000468526.1:n.122-6499_122-6496del
ENST00000539907.5:c.-54-6499_-54-6496del ENSP00000437674.1:n.-54-6499_-54-6496del
ENST00000540617.5:c.-104-6499_-104-6496del ENSP00000442672.1:n.-104-6499_-104-6496de...
NM_000478.4:c.46_49del NP_000469.3:p.Asn16ProfsTer2
NM_001127501.2:c.-104-6499_-104-6496del NP_001120973.2:n.-104-6499_-104-6496del
NM_001177520.1:c.-54-6499_-54-6496del NP_001170991.1:n.-54-6499_-54-6496del
XM_005245818.1:c.46_49del XP_005245875.1:p.Asn16ProfsTer2
XM_005245820.2:c.46_49del XP_005245877.1:p.Asn16ProfsTer2
XM_006710546.1:c.46_49del XP_006710609.1:p.Asn16ProfsTer2
NM_000478.5:c.46_49del NP_000469.3:p.Asn16ProfsTer2
NM_001127501.3:c.-104-6499_-104-6496del NP_001120973.2:n.-104-6499_-104-6496del
NM_001177520.2:c.-54-6499_-54-6496del NP_001170991.1:n.-54-6499_-54-6496del
XM_006710546.3:c.46_49del XP_006710609.1:p.Asn16ProfsTer2
NM_000478.6:c.46_49del MANE Select NP_000469.3:p.Asn16ProfsTer2
NM_001127501.4:c.-104-6499_-104-6496del NP_001120973.2:n.-104-6499_-104-6496del
NM_001177520.3:c.-54-6499_-54-6496del NP_001170991.1:n.-54-6499_-54-6496del
NM_001369803.2:c.46_49del NP_001356732.1:p.Asn16ProfsTer2
NM_001369804.2:c.46_49del NP_001356733.1:p.Asn16ProfsTer2
NM_001369805.2:c.46_49del NP_001356734.1:p.Asn16ProfsTer2
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