Canonical Allele Identifier: CA658820991

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575849_21575850del , CM000663.2:g.21575849_21575850del	GRCh38
NC_000001.10:g.21902342_21902343del , CM000663.1:g.21902342_21902343del	GRCh37
NC_000001.9:g.21774929_21774930del	NCBI36
NG_008940.1:g.71485_71486del

Transcript Alleles

HGVS	Amino-acid Change
NM_000478.6:c.1114_1115del MANE Select	NP_000469.3:p.Leu372AspfsTer?
ENST00000374840.8:c.1114_1115del MANE Select	ENSP00000363973.3:p.Leu372AspfsTer?
NM_000478.4:c.1114_1115del	NP_000469.3:p.Leu372AspfsTer?
NM_000478.5:c.1114_1115del	NP_000469.3:p.Leu372AspfsTer?
NM_001127501.2:c.949_950del	NP_001120973.2:p.Leu317AspfsTer?
NM_001127501.3:c.949_950del	NP_001120973.2:p.Leu317AspfsTer?
NM_001127501.4:c.949_950del	NP_001120973.2:p.Leu317AspfsTer?
NM_001177520.1:c.883_884del	NP_001170991.1:p.Leu295AspfsTer?
NM_001177520.2:c.883_884del	NP_001170991.1:p.Leu295AspfsTer?
NM_001177520.3:c.883_884del	NP_001170991.1:p.Leu295AspfsTer?
NM_001369803.2:c.1114_1115del	NP_001356732.1:p.Leu372AspfsTer?
NM_001369804.2:c.1114_1115del	NP_001356733.1:p.Leu372AspfsTer?
NM_001369805.2:c.1114_1115del	NP_001356734.1:p.Leu372AspfsTer?
ENST00000374829.2:n.383_384del
ENST00000374830.2:c.189_190del
ENST00000374832.5:c.1114_1115del	ENSP00000363965.1:p.Leu372AspfsTer?
ENST00000374840.7:c.1114_1115del	ENSP00000363973.3:p.Leu372AspfsTer?
ENST00000539907.5:c.883_884del	ENSP00000437674.1:p.Leu295AspfsTer?
ENST00000540617.5:c.949_950del	ENSP00000442672.1:p.Leu317AspfsTer?
XM_005245818.1:c.1114_1115del	XP_005245875.1:p.Leu372AspfsTer?
XM_006710546.1:c.1114_1115del	XP_006710609.1:p.Leu372AspfsTer?
XM_006710546.3:c.1114_1115del	XP_006710609.1:p.Leu372AspfsTer?
XM_017000903.1:c.958_959del	XP_016856392.1:p.Leu320AspfsTer?