Canonical Allele Identifier: CA2697552239

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2761501
• ClinVar RCV Id: RCV003567648

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575920_21575923del , CM000663.2:g.21575920_21575923del	GRCh38
NC_000001.10:g.21902413_21902416del , CM000663.1:g.21902413_21902416del	GRCh37
NC_000001.9:g.21775000_21775003del	NCBI36
NG_008940.1:g.71556_71559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1185_1188del MANE Select	ENSP00000363973.3:p.Ile395MetfsTer7
ENST00000374829.2:n.454_457del
ENST00000374830.2:c.260_263del
ENST00000374832.5:c.1185_1188del	ENSP00000363965.1:p.Ile395MetfsTer7
ENST00000374840.7:c.1185_1188del	ENSP00000363973.3:p.Ile395MetfsTer7
ENST00000539907.5:c.954_957del	ENSP00000437674.1:p.Ile318MetfsTer7
ENST00000540617.5:c.1020_1023del	ENSP00000442672.1:p.Ile340MetfsTer7
NM_000478.4:c.1185_1188del	NP_000469.3:p.Ile395MetfsTer7
NM_001127501.2:c.1020_1023del	NP_001120973.2:p.Ile340MetfsTer7
NM_001177520.1:c.954_957del	NP_001170991.1:p.Ile318MetfsTer7
XM_005245818.1:c.1185_1188del	XP_005245875.1:p.Ile395MetfsTer7
XM_006710546.1:c.1185_1188del	XP_006710609.1:p.Ile395MetfsTer7
NM_000478.5:c.1185_1188del	NP_000469.3:p.Ile395MetfsTer7
NM_001127501.3:c.1020_1023del	NP_001120973.2:p.Ile340MetfsTer7
NM_001177520.2:c.954_957del	NP_001170991.1:p.Ile318MetfsTer7
XM_006710546.3:c.1185_1188del	XP_006710609.1:p.Ile395MetfsTer7
XM_017000903.1:c.1029_1032del	XP_016856392.1:p.Ile343MetfsTer7
NM_000478.6:c.1185_1188del MANE Select	NP_000469.3:p.Ile395MetfsTer7
NM_001127501.4:c.1020_1023del	NP_001120973.2:p.Ile340MetfsTer7
NM_001177520.3:c.954_957del	NP_001170991.1:p.Ile318MetfsTer7
NM_001369803.2:c.1185_1188del	NP_001356732.1:p.Ile395MetfsTer7
NM_001369804.2:c.1185_1188del	NP_001356733.1:p.Ile395MetfsTer7
NM_001369805.2:c.1185_1188del	NP_001356734.1:p.Ile395MetfsTer7