Canonical Allele Identifier: CA2580061457

Gene: ALPL

Linked Data

• ClinVar Variation Id: 2202720
• ClinVar RCV Id: RCV002648136

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573781_21573782delinsGG , CM000663.2:g.21573781_21573782delinsGG	GRCh38
NC_000001.10:g.21900274_21900275delinsGG , CM000663.1:g.21900274_21900275delinsGG	GRCh37
NC_000001.9:g.21772861_21772862delinsGG	NCBI36
NG_008940.1:g.69417_69418delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.979_980delinsGG MANE Select	ENSP00000363973.3:p.Phe327Gly
ENST00000374830.2:c.73-1952_73-1951delinsGG
ENST00000374832.5:c.979_980delinsGG	ENSP00000363965.1:p.Phe327Gly
ENST00000374840.7:c.979_980delinsGG	ENSP00000363973.3:p.Phe327Gly
ENST00000539907.5:c.748_749delinsGG	ENSP00000437674.1:p.Phe250Gly
ENST00000540617.5:c.814_815delinsGG	ENSP00000442672.1:p.Phe272Gly
NM_000478.4:c.979_980delinsGG	NP_000469.3:p.Phe327Gly
NM_001127501.2:c.814_815delinsGG	NP_001120973.2:p.Phe272Gly
NM_001177520.1:c.748_749delinsGG	NP_001170991.1:p.Phe250Gly
XM_005245818.1:c.979_980delinsGG	XP_005245875.1:p.Phe327Gly
XM_005245820.2:c.979_980delinsGG	XP_005245877.1:p.Phe327Gly
XM_006710546.1:c.979_980delinsGG	XP_006710609.1:p.Phe327Gly
NM_000478.5:c.979_980delinsGG	NP_000469.3:p.Phe327Gly
NM_001127501.3:c.814_815delinsGG	NP_001120973.2:p.Phe272Gly
NM_001177520.2:c.748_749delinsGG	NP_001170991.1:p.Phe250Gly
XM_006710546.3:c.979_980delinsGG	XP_006710609.1:p.Phe327Gly
XM_017000903.1:c.823_824delinsGG	XP_016856392.1:p.Phe275Gly
NM_000478.6:c.979_980delinsGG MANE Select	NP_000469.3:p.Phe327Gly
NM_001127501.4:c.814_815delinsGG	NP_001120973.2:p.Phe272Gly
NM_001177520.3:c.748_749delinsGG	NP_001170991.1:p.Phe250Gly
NM_001369803.2:c.979_980delinsGG	NP_001356732.1:p.Phe327Gly
NM_001369804.2:c.979_980delinsGG	NP_001356733.1:p.Phe327Gly
NM_001369805.2:c.979_980delinsGG	NP_001356734.1:p.Phe327Gly