Canonical Allele Identifier: CA416532345

Gene: ALPL

Linked Data

• ClinVar Variation Id: 834950
• ClinVar RCV Id: RCV001035740
• dbSNP Id: rs1360625972
• gnomAD v2: 1-21900170-CAGGGGA-C
• gnomAD v3: 1-21573677-CAGGGGA-C
• gnomAD v4: 1-21573677-CAGGGGA-C
• MyVariant Identifiers: chr1:g.21900171_21900176del (hg19) ; chr1:g.21573678_21573683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573678_21573683del , CM000663.2:g.21573678_21573683del	GRCh38
NC_000001.10:g.21900171_21900176del , CM000663.1:g.21900171_21900176del	GRCh37
NC_000001.9:g.21772758_21772763del	NCBI36
NG_008940.1:g.69314_69319del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.876_881del MANE Select	ENSP00000363973.3:p.Gly293_Asp294del
ENST00000374830.2:c.73-2055_73-2050del
ENST00000374832.5:c.876_881del	ENSP00000363965.1:p.Gly293_Asp294del
ENST00000374840.7:c.876_881del	ENSP00000363973.3:p.Gly293_Asp294del
ENST00000539907.5:c.645_650del	ENSP00000437674.1:p.Gly216_Asp217del
ENST00000540617.5:c.711_716del	ENSP00000442672.1:p.Gly238_Asp239del
NM_000478.4:c.876_881del	NP_000469.3:p.Gly293_Asp294del
NM_001127501.2:c.711_716del	NP_001120973.2:p.Gly238_Asp239del
NM_001177520.1:c.645_650del	NP_001170991.1:p.Gly216_Asp217del
XM_005245818.1:c.876_881del	XP_005245875.1:p.Gly293_Asp294del
XM_005245820.2:c.876_881del	XP_005245877.1:p.Gly293_Asp294del
XM_006710546.1:c.876_881del	XP_006710609.1:p.Gly293_Asp294del
NM_000478.5:c.876_881del	NP_000469.3:p.Gly293_Asp294del
NM_001127501.3:c.711_716del	NP_001120973.2:p.Gly238_Asp239del
NM_001177520.2:c.645_650del	NP_001170991.1:p.Gly216_Asp217del
XM_006710546.3:c.876_881del	XP_006710609.1:p.Gly293_Asp294del
XM_017000903.1:c.720_725del	XP_016856392.1:p.Gly241_Asp242del
NM_000478.6:c.876_881del MANE Select	NP_000469.3:p.Gly293_Asp294del
NM_001127501.4:c.711_716del	NP_001120973.2:p.Gly238_Asp239del
NM_001177520.3:c.645_650del	NP_001170991.1:p.Gly216_Asp217del
NM_001369803.2:c.876_881del	NP_001356732.1:p.Gly293_Asp294del
NM_001369804.2:c.876_881del	NP_001356733.1:p.Gly293_Asp294del
NM_001369805.2:c.876_881del	NP_001356734.1:p.Gly293_Asp294del