Canonical Allele Identifier: CA2573320710
Gene: PITX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621327del , CM000666.2:g.110621327del GRCh38
NC_000004.11:g.111542483del , CM000666.1:g.111542483del GRCh37
NC_000004.10:g.111761932del NCBI36
NG_007120.1:g.21027del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.185-2638del ENSP00000484763.2:n.185-2638del
ENST00000614423.5:c.147del ENSP00000481951.2:p.Glu50ArgfsTer?
ENST00000616641.5:n.215del
ENST00000644488.2:n.219del
ENST00000394595.8:c.228del ENSP00000378095.4:p.Glu77ArgfsTer?
ENST00000644488.1:n.291del
ENST00000644743.1:c.249del MANE Select ENSP00000495061.1:p.Glu84ArgfsTer?
ENST00000645131.1:n.180del
ENST00000306732.7:c.249del ENSP00000304169.3:p.Glu84ArgfsTer?
ENST00000354925.6:c.228del ENSP00000347004.2:p.Glu77ArgfsTer?
ENST00000355080.9:c.90del ENSP00000347192.5:p.Glu31ArgfsTer?
ENST00000394595.7:c.185-2638del ENSP00000378095.3:n.185-2638del
ENST00000394598.6:c.228del ENSP00000378097.2:p.Glu77ArgfsTer?
ENST00000511837.5:c.228del ENSP00000421454.1:p.Glu77ArgfsTer?
ENST00000511990.1:c.90del ENSP00000424142.1:p.Glu31ArgfsTer?
ENST00000557119.2:c.249del ENSP00000475617.1:p.Glu84ArgfsTer?
ENST00000613094.4:c.228del ENSP00000484763.1:p.Glu77ArgfsTer?
ENST00000614423.4:c.228del ENSP00000481951.1:p.Glu77ArgfsTer?
ENST00000616641.4:c.90del ENSP00000484909.1:p.Glu31ArgfsTer?
NM_000325.5:c.249del NP_000316.2:p.Glu84ArgfsTer?
NM_001204397.1:c.228del NP_001191326.1:p.Glu77ArgfsTer?
NM_001204398.1:c.228del NP_001191327.1:p.Glu77ArgfsTer?
NM_001204399.1:c.90del NP_001191328.1:p.Glu31ArgfsTer?
NM_153426.2:c.228del NP_700475.1:p.Glu77ArgfsTer?
NM_153427.2:c.90del NP_700476.1:p.Glu31ArgfsTer?
XM_006714235.2:c.228del XP_006714298.1:p.Glu77ArgfsTer?
XM_011532027.1:c.90del XP_011530329.1:p.Glu31ArgfsTer?
XM_024454090.1:c.-106del XP_024309858.1:n.-106del
NM_000325.6:c.249del MANE Select NP_000316.2:p.Glu84ArgfsTer?
NM_001204397.2:c.228del NP_001191326.1:p.Glu77ArgfsTer?
NM_153426.3:c.228del NP_700475.1:p.Glu77ArgfsTer?
NM_153427.3:c.90del NP_700476.1:p.Glu31ArgfsTer?