Canonical Allele Identifier: CA731312781

Gene: ALPL

Linked Data

• dbSNP Id: rs1389094658
• gnomAD v3: 1-21560413-TGAG-T
• gnomAD v4: 1-21560413-TGAG-T
• MyVariant Identifiers: chr1:g.21886907_21886909del (hg19) ; chr1:g.21560414_21560416del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21560417_21560419del , CM000663.2:g.21560417_21560419del	GRCh38
NC_000001.10:g.21886910_21886912del , CM000663.1:g.21886910_21886912del	GRCh37
NC_000001.9:g.21759497_21759499del	NCBI36
NG_008940.1:g.56053_56055del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.62-209_62-207del MANE Select	ENSP00000363973.3:n.62-209_62-207del
ENST00000374832.5:c.62-209_62-207del	ENSP00000363965.1:n.62-209_62-207del
ENST00000374840.7:c.62-209_62-207del	ENSP00000363973.3:n.62-209_62-207del
ENST00000468526.1:n.122-209_122-207del
ENST00000539907.5:c.-54-209_-54-207del	ENSP00000437674.1:n.-54-209_-54-207del
ENST00000540617.5:c.-104-209_-104-207del	ENSP00000442672.1:n.-104-209_-104-207del
NM_000478.4:c.62-209_62-207del	NP_000469.3:n.62-209_62-207del
NM_001127501.2:c.-104-209_-104-207del	NP_001120973.2:n.-104-209_-104-207del
NM_001177520.1:c.-54-209_-54-207del	NP_001170991.1:n.-54-209_-54-207del
XM_005245818.1:c.62-209_62-207del	XP_005245875.1:n.62-209_62-207del
XM_005245820.2:c.62-209_62-207del	XP_005245877.1:n.62-209_62-207del
XM_006710546.1:c.62-209_62-207del	XP_006710609.1:n.62-209_62-207del
NM_000478.5:c.62-209_62-207del	NP_000469.3:n.62-209_62-207del
NM_001127501.3:c.-104-209_-104-207del	NP_001120973.2:n.-104-209_-104-207del
NM_001177520.2:c.-54-209_-54-207del	NP_001170991.1:n.-54-209_-54-207del
XM_006710546.3:c.62-209_62-207del	XP_006710609.1:n.62-209_62-207del
NM_000478.6:c.62-209_62-207del MANE Select	NP_000469.3:n.62-209_62-207del
NM_001127501.4:c.-104-209_-104-207del	NP_001120973.2:n.-104-209_-104-207del
NM_001177520.3:c.-54-209_-54-207del	NP_001170991.1:n.-54-209_-54-207del
NM_001369803.2:c.62-209_62-207del	NP_001356732.1:n.62-209_62-207del
NM_001369804.2:c.62-209_62-207del	NP_001356733.1:n.62-209_62-207del
NM_001369805.2:c.62-209_62-207del	NP_001356734.1:n.62-209_62-207del