Canonical Allele Identifier: CA2739272347

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2847695
• ClinVar RCV Id: RCV003692898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573732del , CM000663.2:g.21573732del	GRCh38
NC_000001.10:g.21900225del , CM000663.1:g.21900225del	GRCh37
NC_000001.9:g.21772812del	NCBI36
NG_008940.1:g.69368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.930del MANE Select	ENSP00000363973.3:p.Glu311ArgfsTer?
ENST00000374830.2:c.73-2001del
ENST00000374832.5:c.930del	ENSP00000363965.1:p.Glu311ArgfsTer?
ENST00000374840.7:c.930del	ENSP00000363973.3:p.Glu311ArgfsTer?
ENST00000539907.5:c.699del	ENSP00000437674.1:p.Glu234ArgfsTer?
ENST00000540617.5:c.765del	ENSP00000442672.1:p.Glu256ArgfsTer?
NM_000478.4:c.930del	NP_000469.3:p.Glu311ArgfsTer?
NM_001127501.2:c.765del	NP_001120973.2:p.Glu256ArgfsTer?
NM_001177520.1:c.699del	NP_001170991.1:p.Glu234ArgfsTer?
XM_005245818.1:c.930del	XP_005245875.1:p.Glu311ArgfsTer?
XM_005245820.2:c.930del	XP_005245877.1:p.Glu311ArgfsTer?
XM_006710546.1:c.930del	XP_006710609.1:p.Glu311ArgfsTer?
NM_000478.5:c.930del	NP_000469.3:p.Glu311ArgfsTer?
NM_001127501.3:c.765del	NP_001120973.2:p.Glu256ArgfsTer?
NM_001177520.2:c.699del	NP_001170991.1:p.Glu234ArgfsTer?
XM_006710546.3:c.930del	XP_006710609.1:p.Glu311ArgfsTer?
XM_017000903.1:c.774del	XP_016856392.1:p.Glu259ArgfsTer?
NM_000478.6:c.930del MANE Select	NP_000469.3:p.Glu311ArgfsTer?
NM_001127501.4:c.765del	NP_001120973.2:p.Glu256ArgfsTer?
NM_001177520.3:c.699del	NP_001170991.1:p.Glu234ArgfsTer?
NM_001369803.2:c.930del	NP_001356732.1:p.Glu311ArgfsTer?
NM_001369804.2:c.930del	NP_001356733.1:p.Glu311ArgfsTer?
NM_001369805.2:c.930del	NP_001356734.1:p.Glu311ArgfsTer?