Canonical Allele Identifier: CA521899903

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1467776
• ClinVar RCV Id: RCV001970485 ; RCV003471209
• dbSNP Id: rs1208855163
• gnomAD v2: 1-21902420-AG-A
• gnomAD v4: 1-21575927-AG-A
• MyVariant Identifiers: chr1:g.21902421del (hg19) ; chr1:g.21575928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575929del , CM000663.2:g.21575929del	GRCh38
NC_000001.10:g.21902422del , CM000663.1:g.21902422del	GRCh37
NC_000001.9:g.21775009del	NCBI36
NG_008940.1:g.71565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1189+5del MANE Select	ENSP00000363973.3:n.1189+5del
ENST00000374829.2:n.458+5del
ENST00000374830.2:c.264+5del
ENST00000374832.5:c.1189+5del	ENSP00000363965.1:n.1189+5del
ENST00000374840.7:c.1189+5del	ENSP00000363973.3:n.1189+5del
ENST00000539907.5:c.958+5del	ENSP00000437674.1:n.958+5del
ENST00000540617.5:c.1024+5del	ENSP00000442672.1:n.1024+5del
NM_000478.4:c.1189+5del	NP_000469.3:n.1189+5del
NM_001127501.2:c.1024+5del	NP_001120973.2:n.1024+5del
NM_001177520.1:c.958+5del	NP_001170991.1:n.958+5del
XM_005245818.1:c.1189+5del	XP_005245875.1:n.1189+5del
XM_006710546.1:c.1189+5del	XP_006710609.1:n.1189+5del
NM_000478.5:c.1189+5del	NP_000469.3:n.1189+5del
NM_001127501.3:c.1024+5del	NP_001120973.2:n.1024+5del
NM_001177520.2:c.958+5del	NP_001170991.1:n.958+5del
XM_006710546.3:c.1189+5del	XP_006710609.1:n.1189+5del
XM_017000903.1:c.1033+5del	XP_016856392.1:n.1033+5del
NM_000478.6:c.1189+5del MANE Select	NP_000469.3:n.1189+5del
NM_001127501.4:c.1024+5del	NP_001120973.2:n.1024+5del
NM_001177520.3:c.958+5del	NP_001170991.1:n.958+5del
NM_001369803.2:c.1189+5del	NP_001356732.1:n.1189+5del
NM_001369804.2:c.1189+5del	NP_001356733.1:n.1189+5del
NM_001369805.2:c.1189+5del	NP_001356734.1:n.1189+5del