Canonical Allele Identifier: CA19059141

Gene: ALPL

Linked Data

• dbSNP Id: rs200166222
• MyVariant Identifiers: chr1:g.21889635_21889643del (hg19) ; chr1:g.21563142_21563150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21563142_21563150del , CM000663.2:g.21563142_21563150del	GRCh38
NC_000001.10:g.21889635_21889643del , CM000663.1:g.21889635_21889643del	GRCh37
NC_000001.9:g.21762222_21762230del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.330_338del MANE Select	ENSP00000363973.3:p.Ala111_Thr113del
ENST00000374832.5:c.330_338del	ENSP00000363965.1:p.Ala111_Thr113del
ENST00000374840.7:c.330_338del	ENSP00000363973.3:p.Ala111_Thr113del
ENST00000468526.1:n.390_398del
ENST00000539907.5:c.99_107del	ENSP00000437674.1:p.Ala34_Thr36del
ENST00000540617.5:c.165_173del	ENSP00000442672.1:p.Ala56_Thr58del
XM_005245818.1:c.330_338del	XP_005245875.1:p.Ala111_Thr113del
XM_005245820.2:c.330_338del	XP_005245877.1:p.Ala111_Thr113del
XM_006710546.1:c.330_338del	XP_006710609.1:p.Ala111_Thr113del
XM_006710546.3:c.330_338del	XP_006710609.1:p.Ala111_Thr113del
XM_017000903.1:c.174_182del	XP_016856392.1:p.Ala59_Thr61del
NM_000478.6:c.330_338del MANE Select	NP_000469.3:p.Ala111_Thr113del
NM_001127501.4:c.165_173del	NP_001120973.2:p.Ala56_Thr58del
NM_001177520.3:c.99_107del	NP_001170991.1:p.Ala34_Thr36del
NM_001369803.2:c.330_338del	NP_001356732.1:p.Ala111_Thr113del
NM_001369804.2:c.330_338del	NP_001356733.1:p.Ala111_Thr113del
NM_001369805.2:c.330_338del	NP_001356734.1:p.Ala111_Thr113del