Canonical Allele Identifier: CA16044254
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375440
ClinVar RCV Id: RCV000416543
dbSNP Id: rs1057519487

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618369_110618390del , CM000666.2:g.110618369_110618390del GRCh38
NC_000004.11:g.111539525_111539546del , CM000666.1:g.111539525_111539546del GRCh37
NC_000004.10:g.111758974_111758995del NCBI36
NG_007120.1:g.23967_23988del

Transcript Alleles

HGVS Amino-acid change
ENST00000613094.5:c.487_508del ENSP00000484763.2:p.Asp163LeufsTer?
ENST00000614423.5:c.612_633del ENSP00000481951.2:p.Thr205SerfsTer4
ENST00000616641.5:n.680_701del
ENST00000644488.2:n.684_705del
ENST00000394595.8:c.693_714del ENSP00000378095.4:p.Thr232SerfsTer4
ENST00000644488.1:n.756_777del
ENST00000644743.1:c.714_735del MANE Select ENSP00000495061.1:p.Thr239SerfsTer4
ENST00000645131.1:n.645_666del
ENST00000306732.7:c.714_735del ENSP00000304169.3:p.Thr239SerfsTer4
ENST00000354925.6:c.693_714del ENSP00000347004.2:p.Thr232SerfsTer4
ENST00000355080.9:c.555_576del ENSP00000347192.5:p.Thr186SerfsTer4
ENST00000394595.7:c.487_508del ENSP00000378095.3:p.Asp163LeufsTer?
ENST00000394598.6:c.693_714del ENSP00000378097.2:p.Thr232SerfsTer4
ENST00000511837.5:c.693_714del ENSP00000421454.1:p.Thr232SerfsTer4
ENST00000607868.1:n.441_462del
ENST00000613094.4:c.693_714del ENSP00000484763.1:p.Thr232SerfsTer4
ENST00000614423.4:c.693_714del ENSP00000481951.1:p.Thr232SerfsTer4
ENST00000616641.4:c.555_576del ENSP00000484909.1:p.Thr186SerfsTer4
NM_000325.5:c.714_735del NP_000316.2:p.Thr239SerfsTer4
NM_001204397.1:c.693_714del NP_001191326.1:p.Thr232SerfsTer4
NM_001204398.1:c.693_714del NP_001191327.1:p.Thr232SerfsTer4
NM_001204399.1:c.555_576del NP_001191328.1:p.Thr186SerfsTer4
NM_153426.2:c.693_714del NP_700475.1:p.Thr232SerfsTer4
NM_153427.2:c.555_576del NP_700476.1:p.Thr186SerfsTer4
XM_006714235.2:c.693_714del XP_006714298.1:p.Thr232SerfsTer4
XM_011532027.1:c.555_576del XP_011530329.1:p.Thr186SerfsTer4
XM_024454090.1:c.360_381del XP_024309858.1:p.Thr121SerfsTer4
NM_000325.6:c.714_735del MANE Select NP_000316.2:p.Thr239SerfsTer4
NM_001204397.2:c.693_714del NP_001191326.1:p.Thr232SerfsTer4
NM_153426.3:c.693_714del NP_700475.1:p.Thr232SerfsTer4
NM_153427.3:c.555_576del NP_700476.1:p.Thr186SerfsTer4