Canonical Allele Identifier: CA2695203778

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618672_110618674del , CM000666.2:g.110618672_110618674del	GRCh38
NC_000004.11:g.111539828_111539830del , CM000666.1:g.111539828_111539830del	GRCh37
NC_000004.10:g.111759277_111759279del	NCBI36
NG_007120.1:g.23682_23684del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.202_204del	ENSP00000484763.2:p.Ser68del
ENST00000614423.5:c.327_329del	ENSP00000481951.2:p.Arg110del
ENST00000616641.5:n.395_397del
ENST00000644488.2:n.399_401del
ENST00000394595.8:c.408_410del	ENSP00000378095.4:p.Arg137del
ENST00000644488.1:n.471_473del
ENST00000644743.1:c.429_431del MANE Select	ENSP00000495061.1:p.Arg144del
ENST00000645131.1:n.360_362del
ENST00000306732.7:c.429_431del	ENSP00000304169.3:p.Arg144del
ENST00000354925.6:c.408_410del	ENSP00000347004.2:p.Arg137del
ENST00000355080.9:c.270_272del	ENSP00000347192.5:p.Arg91del
ENST00000394595.7:c.202_204del	ENSP00000378095.3:p.Ser68del
ENST00000394598.6:c.408_410del	ENSP00000378097.2:p.Arg137del
ENST00000511837.5:c.408_410del	ENSP00000421454.1:p.Arg137del
ENST00000511990.1:c.270_272del	ENSP00000424142.1:p.Arg91del
ENST00000556049.1:n.735_737del
ENST00000607868.1:n.156_158del
ENST00000613094.4:c.408_410del	ENSP00000484763.1:p.Arg137del
ENST00000614423.4:c.408_410del	ENSP00000481951.1:p.Arg137del
ENST00000616641.4:c.270_272del	ENSP00000484909.1:p.Arg91del
NM_000325.5:c.429_431del	NP_000316.2:p.Arg144del
NM_001204397.1:c.408_410del	NP_001191326.1:p.Arg137del
NM_001204398.1:c.408_410del	NP_001191327.1:p.Arg137del
NM_001204399.1:c.270_272del	NP_001191328.1:p.Arg91del
NM_153426.2:c.408_410del	NP_700475.1:p.Arg137del
NM_153427.2:c.270_272del	NP_700476.1:p.Arg91del
XM_006714235.2:c.408_410del	XP_006714298.1:p.Arg137del
XM_011532027.1:c.270_272del	XP_011530329.1:p.Arg91del
XM_024454090.1:c.75_77del	XP_024309858.1:p.Arg26del
NM_000325.6:c.429_431del MANE Select	NP_000316.2:p.Arg144del
NM_001204397.2:c.408_410del	NP_001191326.1:p.Arg137del
NM_153426.3:c.408_410del	NP_700475.1:p.Arg137del
NM_153427.3:c.270_272del	NP_700476.1:p.Arg91del