Canonical Allele Identifier: CA2643930018

Gene: ALPL

Linked Data

• gnomAD v4: 1-21561190-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561194del , CM000663.2:g.21561194del	GRCh38
NC_000001.10:g.21887687del , CM000663.1:g.21887687del	GRCh37
NC_000001.9:g.21760274del	NCBI36
NG_008940.1:g.56830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.279del MANE Select	ENSP00000363973.3:p.Phe94SerfsTer28
ENST00000374832.5:c.279del	ENSP00000363965.1:p.Phe94SerfsTer28
ENST00000374840.7:c.279del	ENSP00000363973.3:p.Phe94SerfsTer28
ENST00000468526.1:n.339del
ENST00000539907.5:c.66+449del	ENSP00000437674.1:n.66+449del
ENST00000540617.5:c.114del	ENSP00000442672.1:p.Phe39SerfsTer28
NM_000478.4:c.279del	NP_000469.3:p.Phe94SerfsTer28
NM_001127501.2:c.114del	NP_001120973.2:p.Phe39SerfsTer28
NM_001177520.1:c.66+449del	NP_001170991.1:n.66+449del
XM_005245818.1:c.279del	XP_005245875.1:p.Phe94SerfsTer28
XM_005245820.2:c.279del	XP_005245877.1:p.Phe94SerfsTer28
XM_006710546.1:c.279del	XP_006710609.1:p.Phe94SerfsTer28
NM_000478.5:c.279del	NP_000469.3:p.Phe94SerfsTer28
NM_001127501.3:c.114del	NP_001120973.2:p.Phe39SerfsTer28
NM_001177520.2:c.66+449del	NP_001170991.1:n.66+449del
XM_006710546.3:c.279del	XP_006710609.1:p.Phe94SerfsTer28
XM_017000903.1:c.123del	XP_016856392.1:p.Phe42SerfsTer28
NM_000478.6:c.279del MANE Select	NP_000469.3:p.Phe94SerfsTer28
NM_001127501.4:c.114del	NP_001120973.2:p.Phe39SerfsTer28
NM_001177520.3:c.66+449del	NP_001170991.1:n.66+449del
NM_001369803.2:c.279del	NP_001356732.1:p.Phe94SerfsTer28
NM_001369804.2:c.279del	NP_001356733.1:p.Phe94SerfsTer28
NM_001369805.2:c.279del	NP_001356734.1:p.Phe94SerfsTer28