Canonical Allele Identifier: CA2574252958

Gene: ALPL

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573754_21573756del , CM000663.2:g.21573754_21573756del	GRCh38
NC_000001.10:g.21900247_21900249del , CM000663.1:g.21900247_21900249del	GRCh37
NC_000001.9:g.21772834_21772836del	NCBI36
NG_008940.1:g.69390_69392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.952_954del MANE Select	ENSP00000363973.3:p.Gln318del
ENST00000374830.2:c.73-1979_73-1977del
ENST00000374832.5:c.952_954del	ENSP00000363965.1:p.Gln318del
ENST00000374840.7:c.952_954del	ENSP00000363973.3:p.Gln318del
ENST00000539907.5:c.721_723del	ENSP00000437674.1:p.Gln241del
ENST00000540617.5:c.787_789del	ENSP00000442672.1:p.Gln263del
NM_000478.4:c.952_954del	NP_000469.3:p.Gln318del
NM_001127501.2:c.787_789del	NP_001120973.2:p.Gln263del
NM_001177520.1:c.721_723del	NP_001170991.1:p.Gln241del
XM_005245818.1:c.952_954del	XP_005245875.1:p.Gln318del
XM_005245820.2:c.952_954del	XP_005245877.1:p.Gln318del
XM_006710546.1:c.952_954del	XP_006710609.1:p.Gln318del
NM_000478.5:c.952_954del	NP_000469.3:p.Gln318del
NM_001127501.3:c.787_789del	NP_001120973.2:p.Gln263del
NM_001177520.2:c.721_723del	NP_001170991.1:p.Gln241del
XM_006710546.3:c.952_954del	XP_006710609.1:p.Gln318del
XM_017000903.1:c.796_798del	XP_016856392.1:p.Gln266del
NM_000478.6:c.952_954del MANE Select	NP_000469.3:p.Gln318del
NM_001127501.4:c.787_789del	NP_001120973.2:p.Gln263del
NM_001177520.3:c.721_723del	NP_001170991.1:p.Gln241del
NM_001369803.2:c.952_954del	NP_001356732.1:p.Gln318del
NM_001369804.2:c.952_954del	NP_001356733.1:p.Gln318del
NM_001369805.2:c.952_954del	NP_001356734.1:p.Gln318del