Canonical Allele Identifier: CA658795411

Gene: ALPL

Linked Data

• ClinVar Variation Id: 504032
• ClinVar RCV Id: RCV000599008 ; RCV001834914
• dbSNP Id: rs1553411896
• MyVariant Identifiers: chr1:g.21887613_21887620del (hg19) ; chr1:g.21561120_21561127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21561120_21561127del , CM000663.2:g.21561120_21561127del	GRCh38
NC_000001.10:g.21887613_21887620del , CM000663.1:g.21887613_21887620del	GRCh37
NC_000001.9:g.21760200_21760207del	NCBI36
NG_008940.1:g.56756_56763del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.205_212del MANE Select	ENSP00000363973.3:p.Ala69HisfsTer?
ENST00000374832.5:c.205_212del	ENSP00000363965.1:p.Ala69HisfsTer?
ENST00000374840.7:c.205_212del	ENSP00000363973.3:p.Ala69HisfsTer?
ENST00000468526.1:n.265_272del
ENST00000539907.5:c.66+375_66+382del	ENSP00000437674.1:n.66+375_66+382del
ENST00000540617.5:c.40_47del	ENSP00000442672.1:p.Ala14HisfsTer?
NM_000478.4:c.205_212del	NP_000469.3:p.Ala69HisfsTer?
NM_001127501.2:c.40_47del	NP_001120973.2:p.Ala14HisfsTer?
NM_001177520.1:c.66+375_66+382del	NP_001170991.1:n.66+375_66+382del
XM_005245818.1:c.205_212del	XP_005245875.1:p.Ala69HisfsTer?
XM_005245820.2:c.205_212del	XP_005245877.1:p.Ala69HisfsTer?
XM_006710546.1:c.205_212del	XP_006710609.1:p.Ala69HisfsTer?
NM_000478.5:c.205_212del	NP_000469.3:p.Ala69HisfsTer?
NM_001127501.3:c.40_47del	NP_001120973.2:p.Ala14HisfsTer?
NM_001177520.2:c.66+375_66+382del	NP_001170991.1:n.66+375_66+382del
XM_006710546.3:c.205_212del	XP_006710609.1:p.Ala69HisfsTer?
XM_017000903.1:c.67-18_67-11del	XP_016856392.1:n.67-18_67-11del
NM_000478.6:c.205_212del MANE Select	NP_000469.3:p.Ala69HisfsTer?
NM_001127501.4:c.40_47del	NP_001120973.2:p.Ala14HisfsTer?
NM_001177520.3:c.66+375_66+382del	NP_001170991.1:n.66+375_66+382del
NM_001369803.2:c.205_212del	NP_001356732.1:p.Ala69HisfsTer?
NM_001369804.2:c.205_212del	NP_001356733.1:p.Ala69HisfsTer?
NM_001369805.2:c.205_212del	NP_001356734.1:p.Ala69HisfsTer?