Canonical Allele Identifier: CA2567499947
Gene: ALPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.21573919_21573929del , CM000663.2:g.21573919_21573929del GRCh38
NC_000001.10:g.21900412_21900422del , CM000663.1:g.21900412_21900422del GRCh37
NC_000001.9:g.21772999_21773009del NCBI36
NG_008940.1:g.69555_69565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374840.8:c.997+120_997+130del MANE Select ENSP00000363973.3:n.997+120_997+130del
ENST00000374830.2:c.73-1814_73-1804del
ENST00000374832.5:c.997+120_997+130del ENSP00000363965.1:n.997+120_997+130del
ENST00000374840.7:c.997+120_997+130del ENSP00000363973.3:n.997+120_997+130del
ENST00000539907.5:c.766+120_766+130del ENSP00000437674.1:n.766+120_766+130del
ENST00000540617.5:c.832+120_832+130del ENSP00000442672.1:n.832+120_832+130del
NM_000478.4:c.997+120_997+130del NP_000469.3:n.997+120_997+130del
NM_001127501.2:c.832+120_832+130del NP_001120973.2:n.832+120_832+130del
NM_001177520.1:c.766+120_766+130del NP_001170991.1:n.766+120_766+130del
XM_005245818.1:c.997+120_997+130del XP_005245875.1:n.997+120_997+130del
XM_005245820.2:c.997+120_998-113del XP_005245877.1:n.997+120_998-113del
XM_006710546.1:c.997+120_997+130del XP_006710609.1:n.997+120_997+130del
NM_000478.5:c.997+120_997+130del NP_000469.3:n.997+120_997+130del
NM_001127501.3:c.832+120_832+130del NP_001120973.2:n.832+120_832+130del
NM_001177520.2:c.766+120_766+130del NP_001170991.1:n.766+120_766+130del
XM_006710546.3:c.997+120_997+130del XP_006710609.1:n.997+120_997+130del
XM_017000903.1:c.841+120_841+130del XP_016856392.1:n.841+120_841+130del
NM_000478.6:c.997+120_997+130del MANE Select NP_000469.3:n.997+120_997+130del
NM_001127501.4:c.832+120_832+130del NP_001120973.2:n.832+120_832+130del
NM_001177520.3:c.766+120_766+130del NP_001170991.1:n.766+120_766+130del
NM_001369803.2:c.997+120_997+130del NP_001356732.1:n.997+120_997+130del
NM_001369804.2:c.997+120_997+130del NP_001356733.1:n.997+120_997+130del
NM_001369805.2:c.997+120_997+130del NP_001356734.1:n.997+120_997+130del