Canonical Allele Identifier: CA785301517
Gene: PITX2 HGNC NCBI

Linked Data

dbSNP Id: rs1406823176

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618577_110618579del , CM000666.2:g.110618577_110618579del GRCh38
NC_000004.11:g.111539733_111539735del , CM000666.1:g.111539733_111539735del GRCh37
NC_000004.10:g.111759182_111759184del NCBI36
NG_007120.1:g.23779_23781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.299_301del ENSP00000484763.2:p.Arg100del
ENST00000614423.5:c.424_426del ENSP00000481951.2:p.Asp142del
ENST00000616641.5:n.492_494del
ENST00000644488.2:n.496_498del
ENST00000394595.8:c.505_507del ENSP00000378095.4:p.Asp169del
ENST00000644488.1:n.568_570del
ENST00000644743.1:c.526_528del MANE Select ENSP00000495061.1:p.Asp176del
ENST00000645131.1:n.457_459del
ENST00000306732.7:c.526_528del ENSP00000304169.3:p.Asp176del
ENST00000354925.6:c.505_507del ENSP00000347004.2:p.Asp169del
ENST00000355080.9:c.367_369del ENSP00000347192.5:p.Asp123del
ENST00000394595.7:c.299_301del ENSP00000378095.3:p.Arg100del
ENST00000394598.6:c.505_507del ENSP00000378097.2:p.Asp169del
ENST00000511837.5:c.505_507del ENSP00000421454.1:p.Asp169del
ENST00000556049.1:n.832_834del
ENST00000607868.1:n.253_255del
ENST00000613094.4:c.505_507del ENSP00000484763.1:p.Asp169del
ENST00000614423.4:c.505_507del ENSP00000481951.1:p.Asp169del
ENST00000616641.4:c.367_369del ENSP00000484909.1:p.Asp123del
NM_000325.5:c.526_528del NP_000316.2:p.Asp176del
NM_001204397.1:c.505_507del NP_001191326.1:p.Asp169del
NM_001204398.1:c.505_507del NP_001191327.1:p.Asp169del
NM_001204399.1:c.367_369del NP_001191328.1:p.Asp123del
NM_153426.2:c.505_507del NP_700475.1:p.Asp169del
NM_153427.2:c.367_369del NP_700476.1:p.Asp123del
XM_006714235.2:c.505_507del XP_006714298.1:p.Asp169del
XM_011532027.1:c.367_369del XP_011530329.1:p.Asp123del
XM_024454090.1:c.172_174del XP_024309858.1:p.Asp58del
NM_000325.6:c.526_528del MANE Select NP_000316.2:p.Asp176del
NM_001204397.2:c.505_507del NP_001191326.1:p.Asp169del
NM_153426.3:c.505_507del NP_700475.1:p.Asp169del
NM_153427.3:c.367_369del NP_700476.1:p.Asp123del