Canonical Allele Identifier: CA521899902

Gene: ALPL

Linked Data

• ClinVar Variation Id: 853207
• ClinVar RCV Id: RCV001057976
• dbSNP Id: rs1172381352
• gnomAD v2: 1-21902304-T-TCGGG
• gnomAD v4: 1-21575811-T-TCGGG
• MyVariant Identifiers: chr1:g.21902304_21902305insCGGG (hg19) ; chr1:g.21575811_21575812insCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21575813_21575816dup , CM000663.2:g.21575813_21575816dup	GRCh38
NC_000001.10:g.21902306_21902309dup , CM000663.1:g.21902306_21902309dup	GRCh37
NC_000001.9:g.21774893_21774896dup	NCBI36
NG_008940.1:g.71449_71452dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374840.8:c.1078_1081dup MANE Select	ENSP00000363973.3:p.Gln361ArgfsTer?
ENST00000374829.2:n.347_350dup
ENST00000374830.2:c.153_156dup
ENST00000374832.5:c.1078_1081dup	ENSP00000363965.1:p.Gln361ArgfsTer?
ENST00000374840.7:c.1078_1081dup	ENSP00000363973.3:p.Gln361ArgfsTer?
ENST00000539907.5:c.847_850dup	ENSP00000437674.1:p.Gln284ArgfsTer?
ENST00000540617.5:c.913_916dup	ENSP00000442672.1:p.Gln306ArgfsTer?
NM_000478.4:c.1078_1081dup	NP_000469.3:p.Gln361ArgfsTer?
NM_001127501.2:c.913_916dup	NP_001120973.2:p.Gln306ArgfsTer?
NM_001177520.1:c.847_850dup	NP_001170991.1:p.Gln284ArgfsTer?
XM_005245818.1:c.1078_1081dup	XP_005245875.1:p.Gln361ArgfsTer?
XM_006710546.1:c.1078_1081dup	XP_006710609.1:p.Gln361ArgfsTer?
NM_000478.5:c.1078_1081dup	NP_000469.3:p.Gln361ArgfsTer?
NM_001127501.3:c.913_916dup	NP_001120973.2:p.Gln306ArgfsTer?
NM_001177520.2:c.847_850dup	NP_001170991.1:p.Gln284ArgfsTer?
XM_006710546.3:c.1078_1081dup	XP_006710609.1:p.Gln361ArgfsTer?
XM_017000903.1:c.922_925dup	XP_016856392.1:p.Gln309ArgfsTer?
NM_000478.6:c.1078_1081dup MANE Select	NP_000469.3:p.Gln361ArgfsTer?
NM_001127501.4:c.913_916dup	NP_001120973.2:p.Gln306ArgfsTer?
NM_001177520.3:c.847_850dup	NP_001170991.1:p.Gln284ArgfsTer?
NM_001369803.2:c.1078_1081dup	NP_001356732.1:p.Gln361ArgfsTer?
NM_001369804.2:c.1078_1081dup	NP_001356733.1:p.Gln361ArgfsTer?
NM_001369805.2:c.1078_1081dup	NP_001356734.1:p.Gln361ArgfsTer?