Canonical Allele Identifier: CA2586966215

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21560708_21560712dup , CM000663.2:g.21560708_21560712dup	GRCh38
NC_000001.10:g.21887201_21887205dup , CM000663.1:g.21887201_21887205dup	GRCh37
NC_000001.9:g.21759788_21759792dup	NCBI36
NG_008940.1:g.56344_56348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.144_148dup MANE Select	ENSP00000363973.3:p.Val50AlafsTer20
ENST00000374832.5:c.144_148dup	ENSP00000363965.1:p.Val50AlafsTer20
ENST00000374840.7:c.144_148dup	ENSP00000363973.3:p.Val50AlafsTer20
ENST00000468526.1:n.204_208dup
ENST00000539907.5:c.29_33dup	ENSP00000437674.1:p.Trp12GlnfsTer4
ENST00000540617.5:c.-22_-18dup	ENSP00000442672.1:n.-22_-18dup
NM_000478.4:c.144_148dup	NP_000469.3:p.Val50AlafsTer20
NM_001127501.2:c.-22_-18dup	NP_001120973.2:n.-22_-18dup
NM_001177520.1:c.29_33dup	NP_001170991.1:p.Trp12GlnfsTer4
XM_005245818.1:c.144_148dup	XP_005245875.1:p.Val50AlafsTer20
XM_005245820.2:c.144_148dup	XP_005245877.1:p.Val50AlafsTer20
XM_006710546.1:c.144_148dup	XP_006710609.1:p.Val50AlafsTer20
NM_000478.5:c.144_148dup	NP_000469.3:p.Val50AlafsTer20
NM_001127501.3:c.-22_-18dup	NP_001120973.2:n.-22_-18dup
NM_001177520.2:c.29_33dup	NP_001170991.1:p.Trp12GlnfsTer4
XM_006710546.3:c.144_148dup	XP_006710609.1:p.Val50AlafsTer20
XM_017000903.1:c.29_33dup	XP_016856392.1:p.Trp12GlnfsTer4
NM_000478.6:c.144_148dup MANE Select	NP_000469.3:p.Val50AlafsTer20
NM_001127501.4:c.-22_-18dup	NP_001120973.2:n.-22_-18dup
NM_001177520.3:c.29_33dup	NP_001170991.1:p.Trp12GlnfsTer4
NM_001369803.2:c.144_148dup	NP_001356732.1:p.Val50AlafsTer20
NM_001369804.2:c.144_148dup	NP_001356733.1:p.Val50AlafsTer20
NM_001369805.2:c.144_148dup	NP_001356734.1:p.Val50AlafsTer20