Canonical Allele Identifier: CA1485101114

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621127_110621128delinsTC , CM000666.2:g.110621127_110621128delinsTC	GRCh38
NC_000004.11:g.111542283_111542284delinsTC , CM000666.1:g.111542283_111542284delinsTC	GRCh37
NC_000004.10:g.111761732_111761733delinsTC	NCBI36
NG_007120.1:g.21225_21226delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2440_185-2439delinsGA	ENSP00000484763.2:n.185-2440_185-2439delinsGA
ENST00000614423.5:c.309+36_309+37delinsGA	ENSP00000481951.2:n.309+36_309+37delinsGA
ENST00000616641.5:n.377+36_377+37delinsGA
ENST00000644488.2:n.381+36_381+37delinsGA
ENST00000394595.8:c.390+36_390+37delinsGA	ENSP00000378095.4:n.390+36_390+37delinsGA
ENST00000644488.1:n.453+36_453+37delinsGA
ENST00000644743.1:c.411+36_411+37delinsGA MANE Select	ENSP00000495061.1:n.411+36_411+37delinsGA
ENST00000645131.1:n.342+36_342+37delinsGA
ENST00000306732.7:c.411+36_411+37delinsGA	ENSP00000304169.3:n.411+36_411+37delinsGA
ENST00000354925.6:c.390+36_390+37delinsGA	ENSP00000347004.2:n.390+36_390+37delinsGA
ENST00000355080.9:c.252+36_252+37delinsGA	ENSP00000347192.5:n.252+36_252+37delinsGA
ENST00000394595.7:c.185-2440_185-2439delinsGA	ENSP00000378095.3:n.185-2440_185-2439delinsGA
ENST00000394598.6:c.390+36_390+37delinsGA	ENSP00000378097.2:n.390+36_390+37delinsGA
ENST00000511837.5:c.390+36_390+37delinsGA	ENSP00000421454.1:n.390+36_390+37delinsGA
ENST00000511990.1:c.252+36_252+37delinsGA	ENSP00000424142.1:n.252+36_252+37delinsGA
ENST00000557119.2:c.447_448delinsGA	ENSP00000475617.1:p.Gly149=
ENST00000613094.4:c.390+36_390+37delinsGA	ENSP00000484763.1:n.390+36_390+37delinsGA
ENST00000614423.4:c.390+36_390+37delinsGA	ENSP00000481951.1:n.390+36_390+37delinsGA
ENST00000616641.4:c.252+36_252+37delinsGA	ENSP00000484909.1:n.252+36_252+37delinsGA
NM_000325.5:c.411+36_411+37delinsGA	NP_000316.2:n.411+36_411+37delinsGA
NM_001204397.1:c.390+36_390+37delinsGA	NP_001191326.1:n.390+36_390+37delinsGA
NM_001204398.1:c.390+36_390+37delinsGA	NP_001191327.1:n.390+36_390+37delinsGA
NM_001204399.1:c.252+36_252+37delinsGA	NP_001191328.1:n.252+36_252+37delinsGA
NM_153426.2:c.390+36_390+37delinsGA	NP_700475.1:n.390+36_390+37delinsGA
NM_153427.2:c.252+36_252+37delinsGA	NP_700476.1:n.252+36_252+37delinsGA
XM_006714235.2:c.390+36_390+37delinsGA	XP_006714298.1:n.390+36_390+37delinsGA
XM_011532027.1:c.252+36_252+37delinsGA	XP_011530329.1:n.252+36_252+37delinsGA
XM_024454090.1:c.57+36_57+37delinsGA	XP_024309858.1:n.57+36_57+37delinsGA
NM_000325.6:c.411+36_411+37delinsGA MANE Select	NP_000316.2:n.411+36_411+37delinsGA
NM_001204397.2:c.390+36_390+37delinsGA	NP_001191326.1:n.390+36_390+37delinsGA
NM_153426.3:c.390+36_390+37delinsGA	NP_700475.1:n.390+36_390+37delinsGA
NM_153427.3:c.252+36_252+37delinsGA	NP_700476.1:n.252+36_252+37delinsGA