Canonical Allele Identifier: CA1485101428

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621310_110621311delinsTC , CM000666.2:g.110621310_110621311delinsTC	GRCh38
NC_000004.11:g.111542466_111542467delinsTC , CM000666.1:g.111542466_111542467delinsTC	GRCh37
NC_000004.10:g.111761915_111761916delinsTC	NCBI36
NG_007120.1:g.21042_21043delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2623_185-2622delinsGA	ENSP00000484763.2:n.185-2623_185-2622delinsGA
ENST00000614423.5:c.162_163delinsGA	ENSP00000481951.2:p.Lys54=
ENST00000616641.5:n.230_231delinsGA
ENST00000644488.2:n.234_235delinsGA
ENST00000394595.8:c.243_244delinsGA	ENSP00000378095.4:p.Lys81=
ENST00000644488.1:n.306_307delinsGA
ENST00000644743.1:c.264_265delinsGA MANE Select	ENSP00000495061.1:p.Lys88=
ENST00000645131.1:n.195_196delinsGA
ENST00000306732.7:c.264_265delinsGA	ENSP00000304169.3:p.Lys88=
ENST00000354925.6:c.243_244delinsGA	ENSP00000347004.2:p.Lys81=
ENST00000355080.9:c.105_106delinsGA	ENSP00000347192.5:p.Lys35=
ENST00000394595.7:c.185-2623_185-2622delinsGA	ENSP00000378095.3:n.185-2623_185-2622delinsGA
ENST00000394598.6:c.243_244delinsGA	ENSP00000378097.2:p.Lys81=
ENST00000511837.5:c.243_244delinsGA	ENSP00000421454.1:p.Lys81=
ENST00000511990.1:c.105_106delinsGA	ENSP00000424142.1:p.Lys35=
ENST00000557119.2:c.264_265delinsGA	ENSP00000475617.1:p.Lys88=
ENST00000613094.4:c.243_244delinsGA	ENSP00000484763.1:p.Lys81=
ENST00000614423.4:c.243_244delinsGA	ENSP00000481951.1:p.Lys81=
ENST00000616641.4:c.105_106delinsGA	ENSP00000484909.1:p.Lys35=
NM_000325.5:c.264_265delinsGA	NP_000316.2:p.Lys88=
NM_001204397.1:c.243_244delinsGA	NP_001191326.1:p.Lys81=
NM_001204398.1:c.243_244delinsGA	NP_001191327.1:p.Lys81=
NM_001204399.1:c.105_106delinsGA	NP_001191328.1:p.Lys35=
NM_153426.2:c.243_244delinsGA	NP_700475.1:p.Lys81=
NM_153427.2:c.105_106delinsGA	NP_700476.1:p.Lys35=
XM_006714235.2:c.243_244delinsGA	XP_006714298.1:p.Lys81=
XM_011532027.1:c.105_106delinsGA	XP_011530329.1:p.Lys35=
XM_024454090.1:c.-91_-90delinsGA	XP_024309858.1:n.-91_-90delinsGA
NM_000325.6:c.264_265delinsGA MANE Select	NP_000316.2:p.Lys88=
NM_001204397.2:c.243_244delinsGA	NP_001191326.1:p.Lys81=
NM_153426.3:c.243_244delinsGA	NP_700475.1:p.Lys81=
NM_153427.3:c.105_106delinsGA	NP_700476.1:p.Lys35=