Canonical Allele Identifier: CA338880190

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2582753
• ClinVar RCV Id: RCV003333869
• MyVariant Identifiers: chr1:g.21573679_21573684del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573679_21573684del , CM000663.2:g.21573679_21573684del	GRCh38
NC_000001.10:g.21900172_21900177del , CM000663.1:g.21900172_21900177del	GRCh37
NC_000001.9:g.21772759_21772764del	NCBI36
NG_008940.1:g.69315_69320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.877_882del MANE Select	ENSP00000363973.3:p.Gly293_Asp294del
ENST00000374830.2:c.73-2054_73-2049del
ENST00000374832.5:c.877_882del	ENSP00000363965.1:p.Gly293_Asp294del
ENST00000374840.7:c.877_882del	ENSP00000363973.3:p.Gly293_Asp294del
ENST00000539907.5:c.646_651del	ENSP00000437674.1:p.Gly216_Asp217del
ENST00000540617.5:c.712_717del	ENSP00000442672.1:p.Gly238_Asp239del
NM_000478.4:c.877_882del	NP_000469.3:p.Gly293_Asp294del
NM_001127501.2:c.712_717del	NP_001120973.2:p.Gly238_Asp239del
NM_001177520.1:c.646_651del	NP_001170991.1:p.Gly216_Asp217del
XM_005245818.1:c.877_882del	XP_005245875.1:p.Gly293_Asp294del
XM_005245820.2:c.877_882del	XP_005245877.1:p.Gly293_Asp294del
XM_006710546.1:c.877_882del	XP_006710609.1:p.Gly293_Asp294del
NM_000478.5:c.877_882del	NP_000469.3:p.Gly293_Asp294del
NM_001127501.3:c.712_717del	NP_001120973.2:p.Gly238_Asp239del
NM_001177520.2:c.646_651del	NP_001170991.1:p.Gly216_Asp217del
XM_006710546.3:c.877_882del	XP_006710609.1:p.Gly293_Asp294del
XM_017000903.1:c.721_726del	XP_016856392.1:p.Gly241_Asp242del
NM_000478.6:c.877_882del MANE Select	NP_000469.3:p.Gly293_Asp294del
NM_001127501.4:c.712_717del	NP_001120973.2:p.Gly238_Asp239del
NM_001177520.3:c.646_651del	NP_001170991.1:p.Gly216_Asp217del
NM_001369803.2:c.877_882del	NP_001356732.1:p.Gly293_Asp294del
NM_001369804.2:c.877_882del	NP_001356733.1:p.Gly293_Asp294del
NM_001369805.2:c.877_882del	NP_001356734.1:p.Gly293_Asp294del