Canonical Allele Identifier: CA666722

Gene: ALPL

Linked Data

• dbSNP Id: rs750033024
• ExAC: 1:21902267 CAGGCCCTGCATG / C
• gnomAD v2: 1-21902267-CAGGCCCTGCATG-C
• gnomAD v4: 1-21575774-CAGGCCCTGCATG-C
• MyVariant Identifiers: chr1:g.21902268_21902279del (hg19) ; chr1:g.21575775_21575786del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575779_21575790del , CM000663.2:g.21575779_21575790del	GRCh38
NC_000001.10:g.21902272_21902283del , CM000663.1:g.21902272_21902283del	GRCh37
NC_000001.9:g.21774859_21774870del	NCBI36
NG_008940.1:g.71415_71426del

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.1044_1055del MANE Select	ENSP00000363973.3:p.Leu349_Ala352del
ENST00000374829.2:n.313_324del
ENST00000374830.2:c.119_130del
ENST00000374832.5:c.1044_1055del	ENSP00000363965.1:p.Leu349_Ala352del
ENST00000374840.7:c.1044_1055del	ENSP00000363973.3:p.Leu349_Ala352del
ENST00000539907.5:c.813_824del	ENSP00000437674.1:p.Leu272_Ala275del
ENST00000540617.5:c.879_890del	ENSP00000442672.1:p.Leu294_Ala297del
NM_000478.4:c.1044_1055del	NP_000469.3:p.Leu349_Ala352del
NM_001127501.2:c.879_890del	NP_001120973.2:p.Leu294_Ala297del
NM_001177520.1:c.813_824del	NP_001170991.1:p.Leu272_Ala275del
XM_005245818.1:c.1044_1055del	XP_005245875.1:p.Leu349_Ala352del
XM_006710546.1:c.1044_1055del	XP_006710609.1:p.Leu349_Ala352del
NM_000478.5:c.1044_1055del	NP_000469.3:p.Leu349_Ala352del
NM_001127501.3:c.879_890del	NP_001120973.2:p.Leu294_Ala297del
NM_001177520.2:c.813_824del	NP_001170991.1:p.Leu272_Ala275del
XM_006710546.3:c.1044_1055del	XP_006710609.1:p.Leu349_Ala352del
XM_017000903.1:c.888_899del	XP_016856392.1:p.Leu297_Ala300del
NM_000478.6:c.1044_1055del MANE Select	NP_000469.3:p.Leu349_Ala352del
NM_001127501.4:c.879_890del	NP_001120973.2:p.Leu294_Ala297del
NM_001177520.3:c.813_824del	NP_001170991.1:p.Leu272_Ala275del
NM_001369803.2:c.1044_1055del	NP_001356732.1:p.Leu349_Ala352del
NM_001369804.2:c.1044_1055del	NP_001356733.1:p.Leu349_Ala352del
NM_001369805.2:c.1044_1055del	NP_001356734.1:p.Leu349_Ala352del