Canonical Allele Identifier: CA2580616752

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618653_110618654del , CM000666.2:g.110618653_110618654del	GRCh38
NC_000004.11:g.111539809_111539810del , CM000666.1:g.111539809_111539810del	GRCh37
NC_000004.10:g.111759258_111759259del	NCBI36
NG_007120.1:g.23701_23702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.221_222del	ENSP00000484763.2:p.Glu74GlyfsTer?
ENST00000614423.5:c.346_347del	ENSP00000481951.2:p.Arg116GlyfsTer?
ENST00000616641.5:n.414_415del
ENST00000644488.2:n.418_419del
ENST00000394595.8:c.427_428del	ENSP00000378095.4:p.Arg143GlyfsTer?
ENST00000644488.1:n.490_491del
ENST00000644743.1:c.448_449del MANE Select	ENSP00000495061.1:p.Arg150GlyfsTer?
ENST00000645131.1:n.379_380del
ENST00000306732.7:c.448_449del	ENSP00000304169.3:p.Arg150GlyfsTer?
ENST00000354925.6:c.427_428del	ENSP00000347004.2:p.Arg143GlyfsTer?
ENST00000355080.9:c.289_290del	ENSP00000347192.5:p.Arg97GlyfsTer?
ENST00000394595.7:c.221_222del	ENSP00000378095.3:p.Glu74GlyfsTer?
ENST00000394598.6:c.427_428del	ENSP00000378097.2:p.Arg143GlyfsTer?
ENST00000511837.5:c.427_428del	ENSP00000421454.1:p.Arg143GlyfsTer?
ENST00000511990.1:c.289_290del	ENSP00000424142.1:p.Arg97GlyfsTer?
ENST00000556049.1:n.754_755del
ENST00000607868.1:n.175_176del
ENST00000613094.4:c.427_428del	ENSP00000484763.1:p.Arg143GlyfsTer?
ENST00000614423.4:c.427_428del	ENSP00000481951.1:p.Arg143GlyfsTer?
ENST00000616641.4:c.289_290del	ENSP00000484909.1:p.Arg97GlyfsTer?
NM_000325.5:c.448_449del	NP_000316.2:p.Arg150GlyfsTer?
NM_001204397.1:c.427_428del	NP_001191326.1:p.Arg143GlyfsTer?
NM_001204398.1:c.427_428del	NP_001191327.1:p.Arg143GlyfsTer?
NM_001204399.1:c.289_290del	NP_001191328.1:p.Arg97GlyfsTer?
NM_153426.2:c.427_428del	NP_700475.1:p.Arg143GlyfsTer?
NM_153427.2:c.289_290del	NP_700476.1:p.Arg97GlyfsTer?
XM_006714235.2:c.427_428del	XP_006714298.1:p.Arg143GlyfsTer?
XM_011532027.1:c.289_290del	XP_011530329.1:p.Arg97GlyfsTer?
XM_024454090.1:c.94_95del	XP_024309858.1:p.Arg32GlyfsTer?
NM_000325.6:c.448_449del MANE Select	NP_000316.2:p.Arg150GlyfsTer?
NM_001204397.2:c.427_428del	NP_001191326.1:p.Arg143GlyfsTer?
NM_153426.3:c.427_428del	NP_700475.1:p.Arg143GlyfsTer?
NM_153427.3:c.289_290del	NP_700476.1:p.Arg97GlyfsTer?