Canonical Allele Identifier: CA1485137051
Gene: PITX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110617692_110617693delinsTA , CM000666.2:g.110617692_110617693delinsTA GRCh38
NC_000004.11:g.111538848_111538849delinsTA , CM000666.1:g.111538848_111538849delinsTA GRCh37
NC_000004.10:g.111758297_111758298delinsTA NCBI36
NG_007120.1:g.24660_24661delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000613094.5:c.*655_*656delinsTA ENSP00000484763.2:n.*655_*656delinsTA
ENST00000614423.5:c.*432_*433delinsTA ENSP00000481951.2:n.*432_*433delinsTA
ENST00000394595.8:c.*432_*433delinsTA ENSP00000378095.4:n.*432_*433delinsTA
ENST00000644488.1:n.1449_1450delinsTA
ENST00000644743.1:c.*432_*433delinsTA MANE Select ENSP00000495061.1:n.*432_*433delinsTA
ENST00000645131.1:n.1338_1339delinsTA
ENST00000306732.7:c.*432_*433delinsTA ENSP00000304169.3:n.*432_*433delinsTA
ENST00000354925.6:c.*432_*433delinsTA ENSP00000347004.2:n.*432_*433delinsTA
ENST00000355080.9:c.*432_*433delinsTA ENSP00000347192.5:n.*432_*433delinsTA
ENST00000394595.7:c.*655_*656delinsTA ENSP00000378095.3:n.*655_*656delinsTA
ENST00000394598.6:c.*432_*433delinsTA ENSP00000378097.2:n.*432_*433delinsTA
ENST00000607868.1:n.1134_1135delinsTA
ENST00000613094.4:c.*432_*433delinsTA ENSP00000484763.1:n.*432_*433delinsTA
ENST00000614423.4:c.*432_*433delinsTA ENSP00000481951.1:n.*432_*433delinsTA
ENST00000616641.4:c.*432_*433delinsTA ENSP00000484909.1:n.*432_*433delinsTA
NM_000325.5:c.*432_*433delinsTA NP_000316.2:n.*432_*433delinsTA
NM_001204397.1:c.*432_*433delinsTA NP_001191326.1:n.*432_*433delinsTA
NM_001204398.1:c.*432_*433delinsTA NP_001191327.1:n.*432_*433delinsTA
NM_001204399.1:c.*432_*433delinsTA NP_001191328.1:n.*432_*433delinsTA
NM_153426.2:c.*432_*433delinsTA NP_700475.1:n.*432_*433delinsTA
NM_153427.2:c.*432_*433delinsTA NP_700476.1:n.*432_*433delinsTA
XM_006714235.2:c.*432_*433delinsTA XP_006714298.1:n.*432_*433delinsTA
XM_011532027.1:c.*432_*433delinsTA XP_011530329.1:n.*432_*433delinsTA
XM_024454090.1:c.*432_*433delinsTA XP_024309858.1:n.*432_*433delinsTA
NM_000325.6:c.*432_*433delinsTA MANE Select NP_000316.2:n.*432_*433delinsTA
NM_001204397.2:c.*432_*433delinsTA NP_001191326.1:n.*432_*433delinsTA
NM_153426.3:c.*432_*433delinsTA NP_700475.1:n.*432_*433delinsTA
NM_153427.3:c.*432_*433delinsTA NP_700476.1:n.*432_*433delinsTA