Canonical Allele Identifier: CA1485137064
Gene: PITX2 HGNC NCBI

Linked Data

dbSNP Id: rs1728817357

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110617731_110617732del , CM000666.2:g.110617731_110617732del GRCh38
NC_000004.11:g.111538887_111538888del , CM000666.1:g.111538887_111538888del GRCh37
NC_000004.10:g.111758336_111758337del NCBI36
NG_007120.1:g.24621_24622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.*616_*617del ENSP00000484763.2:n.*616_*617del
ENST00000614423.5:c.*393_*394del ENSP00000481951.2:n.*393_*394del
ENST00000394595.8:c.*393_*394del ENSP00000378095.4:n.*393_*394del
ENST00000644488.1:n.1410_1411del
ENST00000644743.1:c.*393_*394del MANE Select ENSP00000495061.1:n.*393_*394del
ENST00000645131.1:n.1299_1300del
ENST00000306732.7:c.*393_*394del ENSP00000304169.3:n.*393_*394del
ENST00000354925.6:c.*393_*394del ENSP00000347004.2:n.*393_*394del
ENST00000355080.9:c.*393_*394del ENSP00000347192.5:n.*393_*394del
ENST00000394595.7:c.*616_*617del ENSP00000378095.3:n.*616_*617del
ENST00000394598.6:c.*393_*394del ENSP00000378097.2:n.*393_*394del
ENST00000607868.1:n.1095_1096del
ENST00000613094.4:c.*393_*394del ENSP00000484763.1:n.*393_*394del
ENST00000614423.4:c.*393_*394del ENSP00000481951.1:n.*393_*394del
ENST00000616641.4:c.*393_*394del ENSP00000484909.1:n.*393_*394del
NM_000325.5:c.*393_*394del NP_000316.2:n.*393_*394del
NM_001204397.1:c.*393_*394del NP_001191326.1:n.*393_*394del
NM_001204398.1:c.*393_*394del NP_001191327.1:n.*393_*394del
NM_001204399.1:c.*393_*394del NP_001191328.1:n.*393_*394del
NM_153426.2:c.*393_*394del NP_700475.1:n.*393_*394del
NM_153427.2:c.*393_*394del NP_700476.1:n.*393_*394del
XM_006714235.2:c.*393_*394del XP_006714298.1:n.*393_*394del
XM_011532027.1:c.*393_*394del XP_011530329.1:n.*393_*394del
XM_024454090.1:c.*393_*394del XP_024309858.1:n.*393_*394del
NM_000325.6:c.*393_*394del MANE Select NP_000316.2:n.*393_*394del
NM_001204397.2:c.*393_*394del NP_001191326.1:n.*393_*394del
NM_153426.3:c.*393_*394del NP_700475.1:n.*393_*394del
NM_153427.3:c.*393_*394del NP_700476.1:n.*393_*394del