Canonical Allele Identifier: CA2499214447

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1060122
• ClinVar RCV Id: RCV001369503
• dbSNP Id: rs2148152384
• gnomAD v4: 1-21561129-ATCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561132_21561134del , CM000663.2:g.21561132_21561134del	GRCh38
NC_000001.10:g.21887625_21887627del , CM000663.1:g.21887625_21887627del	GRCh37
NC_000001.9:g.21760212_21760214del	NCBI36
NG_008940.1:g.56768_56770del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.217_219del MANE Select	ENSP00000363973.3:p.Leu73del
ENST00000374832.5:c.217_219del	ENSP00000363965.1:p.Leu73del
ENST00000374840.7:c.217_219del	ENSP00000363973.3:p.Leu73del
ENST00000468526.1:n.277_279del
ENST00000539907.5:c.66+387_66+389del	ENSP00000437674.1:n.66+387_66+389del
ENST00000540617.5:c.52_54del	ENSP00000442672.1:p.Leu18del
NM_000478.4:c.217_219del	NP_000469.3:p.Leu73del
NM_001127501.2:c.52_54del	NP_001120973.2:p.Leu18del
NM_001177520.1:c.66+387_66+389del	NP_001170991.1:n.66+387_66+389del
XM_005245818.1:c.217_219del	XP_005245875.1:p.Leu73del
XM_005245820.2:c.217_219del	XP_005245877.1:p.Leu73del
XM_006710546.1:c.217_219del	XP_006710609.1:p.Leu73del
NM_000478.5:c.217_219del	NP_000469.3:p.Leu73del
NM_001127501.3:c.52_54del	NP_001120973.2:p.Leu18del
NM_001177520.2:c.66+387_66+389del	NP_001170991.1:n.66+387_66+389del
XM_006710546.3:c.217_219del	XP_006710609.1:p.Leu73del
XM_017000903.1:c.67-6_67-4del	XP_016856392.1:n.67-6_67-4del
NM_000478.6:c.217_219del MANE Select	NP_000469.3:p.Leu73del
NM_001127501.4:c.52_54del	NP_001120973.2:p.Leu18del
NM_001177520.3:c.66+387_66+389del	NP_001170991.1:n.66+387_66+389del
NM_001369803.2:c.217_219del	NP_001356732.1:p.Leu73del
NM_001369804.2:c.217_219del	NP_001356733.1:p.Leu73del
NM_001369805.2:c.217_219del	NP_001356734.1:p.Leu73del