Canonical Allele Identifier: CA2695197985

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2671814
• ClinVar RCV Id: RCV003448896

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561152_21561153del , CM000663.2:g.21561152_21561153del	GRCh38
NC_000001.10:g.21887645_21887646del , CM000663.1:g.21887645_21887646del	GRCh37
NC_000001.9:g.21760232_21760233del	NCBI36
NG_008940.1:g.56788_56789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.237_238del MANE Select	ENSP00000363973.3:p.His79GlnfsTer30
ENST00000374832.5:c.237_238del	ENSP00000363965.1:p.His79GlnfsTer30
ENST00000374840.7:c.237_238del	ENSP00000363973.3:p.His79GlnfsTer30
ENST00000468526.1:n.297_298del
ENST00000539907.5:c.66+407_66+408del	ENSP00000437674.1:n.66+407_66+408del
ENST00000540617.5:c.72_73del	ENSP00000442672.1:p.His24GlnfsTer30
NM_000478.4:c.237_238del	NP_000469.3:p.His79GlnfsTer30
NM_001127501.2:c.72_73del	NP_001120973.2:p.His24GlnfsTer30
NM_001177520.1:c.66+407_66+408del	NP_001170991.1:n.66+407_66+408del
XM_005245818.1:c.237_238del	XP_005245875.1:p.His79GlnfsTer30
XM_005245820.2:c.237_238del	XP_005245877.1:p.His79GlnfsTer30
XM_006710546.1:c.237_238del	XP_006710609.1:p.His79GlnfsTer30
NM_000478.5:c.237_238del	NP_000469.3:p.His79GlnfsTer30
NM_001127501.3:c.72_73del	NP_001120973.2:p.His24GlnfsTer30
NM_001177520.2:c.66+407_66+408del	NP_001170991.1:n.66+407_66+408del
XM_006710546.3:c.237_238del	XP_006710609.1:p.His79GlnfsTer30
XM_017000903.1:c.81_82del	XP_016856392.1:p.His27GlnfsTer30
NM_000478.6:c.237_238del MANE Select	NP_000469.3:p.His79GlnfsTer30
NM_001127501.4:c.72_73del	NP_001120973.2:p.His24GlnfsTer30
NM_001177520.3:c.66+407_66+408del	NP_001170991.1:n.66+407_66+408del
NM_001369803.2:c.237_238del	NP_001356732.1:p.His79GlnfsTer30
NM_001369804.2:c.237_238del	NP_001356733.1:p.His79GlnfsTer30
NM_001369805.2:c.237_238del	NP_001356734.1:p.His79GlnfsTer30