Canonical Allele Identifier: CA2580071396

Gene: PITX2

Linked Data

• ClinVar Variation Id: 1693124
• ClinVar RCV Id: RCV002293559

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618575del , CM000666.2:g.110618575del	GRCh38
NC_000004.11:g.111539731del , CM000666.1:g.111539731del	GRCh37
NC_000004.10:g.111759180del	NCBI36
NG_007120.1:g.23778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.298del	ENSP00000484763.2:p.Arg100AspfsTer?
ENST00000614423.5:c.423del	ENSP00000481951.2:p.Asp141GlufsTer?
ENST00000616641.5:n.491del
ENST00000644488.2:n.495del
ENST00000394595.8:c.504del	ENSP00000378095.4:p.Asp168GlufsTer?
ENST00000644488.1:n.567del
ENST00000644743.1:c.525del MANE Select	ENSP00000495061.1:p.Asp175GlufsTer?
ENST00000645131.1:n.456del
ENST00000306732.7:c.525del	ENSP00000304169.3:p.Asp175GlufsTer?
ENST00000354925.6:c.504del	ENSP00000347004.2:p.Asp168GlufsTer?
ENST00000355080.9:c.366del	ENSP00000347192.5:p.Asp122GlufsTer?
ENST00000394595.7:c.298del	ENSP00000378095.3:p.Arg100AspfsTer?
ENST00000394598.6:c.504del	ENSP00000378097.2:p.Asp168GlufsTer?
ENST00000511837.5:c.504del	ENSP00000421454.1:p.Asp168GlufsTer?
ENST00000556049.1:n.831del
ENST00000607868.1:n.252del
ENST00000613094.4:c.504del	ENSP00000484763.1:p.Asp168GlufsTer?
ENST00000614423.4:c.504del	ENSP00000481951.1:p.Asp168GlufsTer?
ENST00000616641.4:c.366del	ENSP00000484909.1:p.Asp122GlufsTer?
NM_000325.5:c.525del	NP_000316.2:p.Asp175GlufsTer?
NM_001204397.1:c.504del	NP_001191326.1:p.Asp168GlufsTer?
NM_001204398.1:c.504del	NP_001191327.1:p.Asp168GlufsTer?
NM_001204399.1:c.366del	NP_001191328.1:p.Asp122GlufsTer?
NM_153426.2:c.504del	NP_700475.1:p.Asp168GlufsTer?
NM_153427.2:c.366del	NP_700476.1:p.Asp122GlufsTer?
XM_006714235.2:c.504del	XP_006714298.1:p.Asp168GlufsTer?
XM_011532027.1:c.366del	XP_011530329.1:p.Asp122GlufsTer?
XM_024454090.1:c.171del	XP_024309858.1:p.Asp57GlufsTer?
NM_000325.6:c.525del MANE Select	NP_000316.2:p.Asp175GlufsTer?
NM_001204397.2:c.504del	NP_001191326.1:p.Asp168GlufsTer?
NM_153426.3:c.504del	NP_700475.1:p.Asp168GlufsTer?
NM_153427.3:c.366del	NP_700476.1:p.Asp122GlufsTer?