Canonical Allele Identifier: CA338881513

Gene: ALPL

Linked Data

• ClinVar Variation Id: 552330
• ClinVar RCV Id: RCV000667568 ; RCV001779046 ; RCV002499160
• dbSNP Id: rs1344601362
• gnomAD v4: 1-21575913-ACT-A
• MyVariant Identifiers: chr1:g.21902407_21902408del (hg19) ; chr1:g.21575916_21575917del (hg38) ; chr1:g.21575915_21575916del (hg38) ; chr1:g.21575914_21575915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575916_21575917del , CM000663.2:g.21575916_21575917del	GRCh38
NC_000001.10:g.21902409_21902410del , CM000663.1:g.21902409_21902410del	GRCh37
NC_000001.9:g.21774996_21774997del	NCBI36
NG_008940.1:g.71552_71553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.1181_1182del MANE Select	ENSP00000363973.3:p.Ser394TyrfsTer10
ENST00000374829.2:n.450_451del
ENST00000374830.2:c.256_257del
ENST00000374832.5:c.1181_1182del	ENSP00000363965.1:p.Ser394TyrfsTer10
ENST00000374840.7:c.1181_1182del	ENSP00000363973.3:p.Ser394TyrfsTer10
ENST00000539907.5:c.950_951del	ENSP00000437674.1:p.Ser317TyrfsTer10
ENST00000540617.5:c.1016_1017del	ENSP00000442672.1:p.Ser339TyrfsTer10
NM_000478.4:c.1181_1182del	NP_000469.3:p.Ser394TyrfsTer10
NM_001127501.2:c.1016_1017del	NP_001120973.2:p.Ser339TyrfsTer10
NM_001177520.1:c.950_951del	NP_001170991.1:p.Ser317TyrfsTer10
XM_005245818.1:c.1181_1182del	XP_005245875.1:p.Ser394TyrfsTer10
XM_006710546.1:c.1181_1182del	XP_006710609.1:p.Ser394TyrfsTer10
NM_000478.5:c.1181_1182del	NP_000469.3:p.Ser394TyrfsTer10
NM_001127501.3:c.1016_1017del	NP_001120973.2:p.Ser339TyrfsTer10
NM_001177520.2:c.950_951del	NP_001170991.1:p.Ser317TyrfsTer10
XM_006710546.3:c.1181_1182del	XP_006710609.1:p.Ser394TyrfsTer10
XM_017000903.1:c.1025_1026del	XP_016856392.1:p.Ser342TyrfsTer10
NM_000478.6:c.1181_1182del MANE Select	NP_000469.3:p.Ser394TyrfsTer10
NM_001127501.4:c.1016_1017del	NP_001120973.2:p.Ser339TyrfsTer10
NM_001177520.3:c.950_951del	NP_001170991.1:p.Ser317TyrfsTer10
NM_001369803.2:c.1181_1182del	NP_001356732.1:p.Ser394TyrfsTer10
NM_001369804.2:c.1181_1182del	NP_001356733.1:p.Ser394TyrfsTer10
NM_001369805.2:c.1181_1182del	NP_001356734.1:p.Ser394TyrfsTer10