Canonical Allele Identifier: CA2763074071
Gene: PITX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618677_110618681del , CM000666.2:g.110618677_110618681del GRCh38
NC_000004.11:g.111539833_111539837del , CM000666.1:g.111539833_111539837del GRCh37
NC_000004.10:g.111759282_111759286del NCBI36
NG_007120.1:g.23672_23676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.192_196del ENSP00000484763.2:p.Gln65IlefsTer?
ENST00000614423.5:c.317_321del ENSP00000481951.2:p.Phe106Ter
ENST00000616641.5:n.385_389del
ENST00000644488.2:n.389_393del
ENST00000394595.8:c.398_402del ENSP00000378095.4:p.Phe133Ter
ENST00000644488.1:n.461_465del
ENST00000644743.1:c.419_423del MANE Select ENSP00000495061.1:p.Phe140Ter
ENST00000645131.1:n.350_354del
ENST00000306732.7:c.419_423del ENSP00000304169.3:p.Phe140Ter
ENST00000354925.6:c.398_402del ENSP00000347004.2:p.Phe133Ter
ENST00000355080.9:c.260_264del ENSP00000347192.5:p.Phe87Ter
ENST00000394595.7:c.192_196del ENSP00000378095.3:p.Gln65IlefsTer?
ENST00000394598.6:c.398_402del ENSP00000378097.2:p.Phe133Ter
ENST00000511837.5:c.398_402del ENSP00000421454.1:p.Phe133Ter
ENST00000511990.1:c.260_264del ENSP00000424142.1:p.Phe87Ter
ENST00000556049.1:n.725_729del
ENST00000607868.1:n.146_150del
ENST00000613094.4:c.398_402del ENSP00000484763.1:p.Phe133Ter
ENST00000614423.4:c.398_402del ENSP00000481951.1:p.Phe133Ter
ENST00000616641.4:c.260_264del ENSP00000484909.1:p.Phe87Ter
NM_000325.5:c.419_423del NP_000316.2:p.Phe140Ter
NM_001204397.1:c.398_402del NP_001191326.1:p.Phe133Ter
NM_001204398.1:c.398_402del NP_001191327.1:p.Phe133Ter
NM_001204399.1:c.260_264del NP_001191328.1:p.Phe87Ter
NM_153426.2:c.398_402del NP_700475.1:p.Phe133Ter
NM_153427.2:c.260_264del NP_700476.1:p.Phe87Ter
XM_006714235.2:c.398_402del XP_006714298.1:p.Phe133Ter
XM_011532027.1:c.260_264del XP_011530329.1:p.Phe87Ter
XM_024454090.1:c.65_69del XP_024309858.1:p.Phe22Ter
NM_000325.6:c.419_423del MANE Select NP_000316.2:p.Phe140Ter
NM_001204397.2:c.398_402del NP_001191326.1:p.Phe133Ter
NM_153426.3:c.398_402del NP_700475.1:p.Phe133Ter
NM_153427.3:c.260_264del NP_700476.1:p.Phe87Ter