Canonical Allele Identifier: CA1139771350

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561102_21561120del , CM000663.2:g.21561102_21561120del	GRCh38
NC_000001.10:g.21887595_21887613del , CM000663.1:g.21887595_21887613del	GRCh37
NC_000001.9:g.21760182_21760200del	NCBI36
NG_008940.1:g.56738_56756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.187_205del MANE Select	ENSP00000363973.3:p.Gly63LeufsTer?
ENST00000374832.5:c.187_205del	ENSP00000363965.1:p.Gly63LeufsTer?
ENST00000374840.7:c.187_205del	ENSP00000363973.3:p.Gly63LeufsTer?
ENST00000468526.1:n.247_265del
ENST00000539907.5:c.66+357_66+375del	ENSP00000437674.1:n.66+357_66+375del
ENST00000540617.5:c.22_40del	ENSP00000442672.1:p.Gly8LeufsTer?
NM_000478.4:c.187_205del	NP_000469.3:p.Gly63LeufsTer?
NM_001127501.2:c.22_40del	NP_001120973.2:p.Gly8LeufsTer?
NM_001177520.1:c.66+357_66+375del	NP_001170991.1:n.66+357_66+375del
XM_005245818.1:c.187_205del	XP_005245875.1:p.Gly63LeufsTer?
XM_005245820.2:c.187_205del	XP_005245877.1:p.Gly63LeufsTer?
XM_006710546.1:c.187_205del	XP_006710609.1:p.Gly63LeufsTer?
NM_000478.5:c.187_205del	NP_000469.3:p.Gly63LeufsTer?
NM_001127501.3:c.22_40del	NP_001120973.2:p.Gly8LeufsTer?
NM_001177520.2:c.66+357_66+375del	NP_001170991.1:n.66+357_66+375del
XM_006710546.3:c.187_205del	XP_006710609.1:p.Gly63LeufsTer?
XM_017000903.1:c.67-36_67-18del	XP_016856392.1:n.67-36_67-18del
NM_000478.6:c.187_205del MANE Select	NP_000469.3:p.Gly63LeufsTer?
NM_001127501.4:c.22_40del	NP_001120973.2:p.Gly8LeufsTer?
NM_001177520.3:c.66+357_66+375del	NP_001170991.1:n.66+357_66+375del
NM_001369803.2:c.187_205del	NP_001356732.1:p.Gly63LeufsTer?
NM_001369804.2:c.187_205del	NP_001356733.1:p.Gly63LeufsTer?
NM_001369805.2:c.187_205del	NP_001356734.1:p.Gly63LeufsTer?