Canonical Allele Identifier: CA731314557

Gene: ALPL

Linked Data

• dbSNP Id: rs1203446443
• gnomAD v4: 1-21573764-GGAA-G
• MyVariant Identifiers: chr1:g.21900258_21900260del (hg19) ; chr1:g.21573765_21573767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573768_21573770del , CM000663.2:g.21573768_21573770del	GRCh38
NC_000001.10:g.21900261_21900263del , CM000663.1:g.21900261_21900263del	GRCh37
NC_000001.9:g.21772848_21772850del	NCBI36
NG_008940.1:g.69404_69406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.966_968del MANE Select	ENSP00000363973.3:p.Lys322del
ENST00000374830.2:c.73-1965_73-1963del
ENST00000374832.5:c.966_968del	ENSP00000363965.1:p.Lys322del
ENST00000374840.7:c.966_968del	ENSP00000363973.3:p.Lys322del
ENST00000539907.5:c.735_737del	ENSP00000437674.1:p.Lys245del
ENST00000540617.5:c.801_803del	ENSP00000442672.1:p.Lys267del
NM_000478.4:c.966_968del	NP_000469.3:p.Lys322del
NM_001127501.2:c.801_803del	NP_001120973.2:p.Lys267del
NM_001177520.1:c.735_737del	NP_001170991.1:p.Lys245del
XM_005245818.1:c.966_968del	XP_005245875.1:p.Lys322del
XM_005245820.2:c.966_968del	XP_005245877.1:p.Lys322del
XM_006710546.1:c.966_968del	XP_006710609.1:p.Lys322del
NM_000478.5:c.966_968del	NP_000469.3:p.Lys322del
NM_001127501.3:c.801_803del	NP_001120973.2:p.Lys267del
NM_001177520.2:c.735_737del	NP_001170991.1:p.Lys245del
XM_006710546.3:c.966_968del	XP_006710609.1:p.Lys322del
XM_017000903.1:c.810_812del	XP_016856392.1:p.Lys270del
NM_000478.6:c.966_968del MANE Select	NP_000469.3:p.Lys322del
NM_001127501.4:c.801_803del	NP_001120973.2:p.Lys267del
NM_001177520.3:c.735_737del	NP_001170991.1:p.Lys245del
NM_001369803.2:c.966_968del	NP_001356732.1:p.Lys322del
NM_001369804.2:c.966_968del	NP_001356733.1:p.Lys322del
NM_001369805.2:c.966_968del	NP_001356734.1:p.Lys322del