Canonical Allele Identifier: CA19067881

Gene: ALPL

Linked Data

• dbSNP Id: rs999794986
• gnomAD v2: 1-21900100-GTCC-G
• gnomAD v3: 1-21573607-GTCC-G
• gnomAD v4: 1-21573607-GTCC-G
• MyVariant Identifiers: chr1:g.21900101_21900103del (hg19) ; chr1:g.21573608_21573610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573612_21573614del , CM000663.2:g.21573612_21573614del	GRCh38
NC_000001.10:g.21900105_21900107del , CM000663.1:g.21900105_21900107del	GRCh37
NC_000001.9:g.21772692_21772694del	NCBI36
NG_008940.1:g.69248_69250del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.863-53_863-51del MANE Select	ENSP00000363973.3:n.863-53_863-51del
ENST00000374830.2:c.73-2121_73-2119del
ENST00000374832.5:c.863-53_863-51del	ENSP00000363965.1:n.863-53_863-51del
ENST00000374840.7:c.863-53_863-51del	ENSP00000363973.3:n.863-53_863-51del
ENST00000539907.5:c.632-53_632-51del	ENSP00000437674.1:n.632-53_632-51del
ENST00000540617.5:c.698-53_698-51del	ENSP00000442672.1:n.698-53_698-51del
NM_000478.4:c.863-53_863-51del	NP_000469.3:n.863-53_863-51del
NM_001127501.2:c.698-53_698-51del	NP_001120973.2:n.698-53_698-51del
NM_001177520.1:c.632-53_632-51del	NP_001170991.1:n.632-53_632-51del
XM_005245818.1:c.863-53_863-51del	XP_005245875.1:n.863-53_863-51del
XM_005245820.2:c.863-53_863-51del	XP_005245877.1:n.863-53_863-51del
XM_006710546.1:c.863-53_863-51del	XP_006710609.1:n.863-53_863-51del
NM_000478.5:c.863-53_863-51del	NP_000469.3:n.863-53_863-51del
NM_001127501.3:c.698-53_698-51del	NP_001120973.2:n.698-53_698-51del
NM_001177520.2:c.632-53_632-51del	NP_001170991.1:n.632-53_632-51del
XM_006710546.3:c.863-53_863-51del	XP_006710609.1:n.863-53_863-51del
XM_017000903.1:c.707-53_707-51del	XP_016856392.1:n.707-53_707-51del
NM_000478.6:c.863-53_863-51del MANE Select	NP_000469.3:n.863-53_863-51del
NM_001127501.4:c.698-53_698-51del	NP_001120973.2:n.698-53_698-51del
NM_001177520.3:c.632-53_632-51del	NP_001170991.1:n.632-53_632-51del
NM_001369803.2:c.863-53_863-51del	NP_001356732.1:n.863-53_863-51del
NM_001369804.2:c.863-53_863-51del	NP_001356733.1:n.863-53_863-51del
NM_001369805.2:c.863-53_863-51del	NP_001356734.1:n.863-53_863-51del