Canonical Allele Identifier: CA2580061454

Gene: ALPL

Linked Data

• ClinVar Variation Id: 1725345
• ClinVar RCV Id: RCV002309029

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21573709_21573710insCACG , CM000663.2:g.21573709_21573710insCACG	GRCh38
NC_000001.10:g.21900202_21900203insCACG , CM000663.1:g.21900202_21900203insCACG	GRCh37
NC_000001.9:g.21772789_21772790insCACG	NCBI36
NG_008940.1:g.69345_69346insCACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374840.8:c.907_908insCACG MANE Select	ENSP00000363973.3:p.Asn303ThrfsTer?
ENST00000374830.2:c.73-2024_73-2023insCACG
ENST00000374832.5:c.907_908insCACG	ENSP00000363965.1:p.Asn303ThrfsTer?
ENST00000374840.7:c.907_908insCACG	ENSP00000363973.3:p.Asn303ThrfsTer?
ENST00000539907.5:c.676_677insCACG	ENSP00000437674.1:p.Asn226ThrfsTer?
ENST00000540617.5:c.742_743insCACG	ENSP00000442672.1:p.Asn248ThrfsTer?
NM_000478.4:c.907_908insCACG	NP_000469.3:p.Asn303ThrfsTer?
NM_001127501.2:c.742_743insCACG	NP_001120973.2:p.Asn248ThrfsTer?
NM_001177520.1:c.676_677insCACG	NP_001170991.1:p.Asn226ThrfsTer?
XM_005245818.1:c.907_908insCACG	XP_005245875.1:p.Asn303ThrfsTer?
XM_005245820.2:c.907_908insCACG	XP_005245877.1:p.Asn303ThrfsTer?
XM_006710546.1:c.907_908insCACG	XP_006710609.1:p.Asn303ThrfsTer?
NM_000478.5:c.907_908insCACG	NP_000469.3:p.Asn303ThrfsTer?
NM_001127501.3:c.742_743insCACG	NP_001120973.2:p.Asn248ThrfsTer?
NM_001177520.2:c.676_677insCACG	NP_001170991.1:p.Asn226ThrfsTer?
XM_006710546.3:c.907_908insCACG	XP_006710609.1:p.Asn303ThrfsTer?
XM_017000903.1:c.751_752insCACG	XP_016856392.1:p.Asn251ThrfsTer?
NM_000478.6:c.907_908insCACG MANE Select	NP_000469.3:p.Asn303ThrfsTer?
NM_001127501.4:c.742_743insCACG	NP_001120973.2:p.Asn248ThrfsTer?
NM_001177520.3:c.676_677insCACG	NP_001170991.1:p.Asn226ThrfsTer?
NM_001369803.2:c.907_908insCACG	NP_001356732.1:p.Asn303ThrfsTer?
NM_001369804.2:c.907_908insCACG	NP_001356733.1:p.Asn303ThrfsTer?
NM_001369805.2:c.907_908insCACG	NP_001356734.1:p.Asn303ThrfsTer?