Canonical Allele Identifier: CA16040718

Gene: ALPL

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21570353del , CM000663.2:g.21570353del	GRCh38
NC_000001.10:g.21896846del , CM000663.1:g.21896846del	GRCh37
NC_000001.9:g.21769433del	NCBI36
NG_008940.1:g.65989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.841del MANE Select	ENSP00000363973.3:p.His281ThrfsTer19
ENST00000374830.2:c.51del
ENST00000374832.5:c.841del	ENSP00000363965.1:p.His281ThrfsTer19
ENST00000374840.7:c.841del	ENSP00000363973.3:p.His281ThrfsTer19
ENST00000539907.5:c.610del	ENSP00000437674.1:p.His204ThrfsTer19
ENST00000540617.5:c.676del	ENSP00000442672.1:p.His226ThrfsTer19
NM_000478.4:c.841del	NP_000469.3:p.His281ThrfsTer19
NM_001127501.2:c.676del	NP_001120973.2:p.His226ThrfsTer19
NM_001177520.1:c.610del	NP_001170991.1:p.His204ThrfsTer19
XM_005245818.1:c.841del	XP_005245875.1:p.His281ThrfsTer19
XM_005245820.2:c.841del	XP_005245877.1:p.His281ThrfsTer19
XM_006710546.1:c.841del	XP_006710609.1:p.His281ThrfsTer19
NM_000478.5:c.841del	NP_000469.3:p.His281ThrfsTer19
NM_001127501.3:c.676del	NP_001120973.2:p.His226ThrfsTer19
NM_001177520.2:c.610del	NP_001170991.1:p.His204ThrfsTer19
XM_006710546.3:c.841del	XP_006710609.1:p.His281ThrfsTer19
XM_017000903.1:c.685del	XP_016856392.1:p.His229ThrfsTer19
NM_000478.6:c.841del MANE Select	NP_000469.3:p.His281ThrfsTer19
NM_001127501.4:c.676del	NP_001120973.2:p.His226ThrfsTer19
NM_001177520.3:c.610del	NP_001170991.1:p.His204ThrfsTer19
NM_001369803.2:c.841del	NP_001356732.1:p.His281ThrfsTer19
NM_001369804.2:c.841del	NP_001356733.1:p.His281ThrfsTer19
NM_001369805.2:c.841del	NP_001356734.1:p.His281ThrfsTer19