Canonical Allele Identifier: CA2671770114

Gene: PITX2

Linked Data

• gnomAD v4: 4-110621331-C-CGAGATCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621331_110621332insGAGATCTA , CM000666.2:g.110621331_110621332insGAGATCTA	GRCh38
NC_000004.11:g.111542487_111542488insGAGATCTA , CM000666.1:g.111542487_111542488insGAGATCTA	GRCh37
NC_000004.10:g.111761936_111761937insGAGATCTA	NCBI36
NG_007120.1:g.21021_21022insTAGATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2644_185-2643insTAGATCTC	ENSP00000484763.2:n.185-2644_185-2643insTAGATCTC
ENST00000614423.5:c.141_142insTAGATCTC	ENSP00000481951.2:p.Gly48Ter
ENST00000616641.5:n.209_210insTAGATCTC
ENST00000644488.2:n.213_214insTAGATCTC
ENST00000394595.8:c.222_223insTAGATCTC	ENSP00000378095.4:p.Gly75Ter
ENST00000644488.1:n.285_286insTAGATCTC
ENST00000644743.1:c.243_244insTAGATCTC MANE Select	ENSP00000495061.1:p.Gly82Ter
ENST00000645131.1:n.174_175insTAGATCTC
ENST00000306732.7:c.243_244insTAGATCTC	ENSP00000304169.3:p.Gly82Ter
ENST00000354925.6:c.222_223insTAGATCTC	ENSP00000347004.2:p.Gly75Ter
ENST00000355080.9:c.84_85insTAGATCTC	ENSP00000347192.5:p.Gly29Ter
ENST00000394595.7:c.185-2644_185-2643insTAGATCTC	ENSP00000378095.3:n.185-2644_185-2643insTAGATCTC
ENST00000394598.6:c.222_223insTAGATCTC	ENSP00000378097.2:p.Gly75Ter
ENST00000511837.5:c.222_223insTAGATCTC	ENSP00000421454.1:p.Gly75Ter
ENST00000511990.1:c.84_85insTAGATCTC	ENSP00000424142.1:p.Gly29Ter
ENST00000557119.2:c.243_244insTAGATCTC	ENSP00000475617.1:p.Gly82Ter
ENST00000613094.4:c.222_223insTAGATCTC	ENSP00000484763.1:p.Gly75Ter
ENST00000614423.4:c.222_223insTAGATCTC	ENSP00000481951.1:p.Gly75Ter
ENST00000616641.4:c.84_85insTAGATCTC	ENSP00000484909.1:p.Gly29Ter
NM_000325.5:c.243_244insTAGATCTC	NP_000316.2:p.Gly82Ter
NM_001204397.1:c.222_223insTAGATCTC	NP_001191326.1:p.Gly75Ter
NM_001204398.1:c.222_223insTAGATCTC	NP_001191327.1:p.Gly75Ter
NM_001204399.1:c.84_85insTAGATCTC	NP_001191328.1:p.Gly29Ter
NM_153426.2:c.222_223insTAGATCTC	NP_700475.1:p.Gly75Ter
NM_153427.2:c.84_85insTAGATCTC	NP_700476.1:p.Gly29Ter
XM_006714235.2:c.222_223insTAGATCTC	XP_006714298.1:p.Gly75Ter
XM_011532027.1:c.84_85insTAGATCTC	XP_011530329.1:p.Gly29Ter
XM_024454090.1:c.-112_-111insTAGATCTC	XP_024309858.1:n.-112_-111insTAGATCTC
NM_000325.6:c.243_244insTAGATCTC MANE Select	NP_000316.2:p.Gly82Ter
NM_001204397.2:c.222_223insTAGATCTC	NP_001191326.1:p.Gly75Ter
NM_153426.3:c.222_223insTAGATCTC	NP_700475.1:p.Gly75Ter
NM_153427.3:c.84_85insTAGATCTC	NP_700476.1:p.Gly29Ter