Canonical Allele Identifier: CA2830782646
Gene: PITX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621345_110621347del , CM000666.2:g.110621345_110621347del GRCh38
NC_000004.11:g.111542501_111542503del , CM000666.1:g.111542501_111542503del GRCh37
NC_000004.10:g.111761950_111761952del NCBI36
NG_007120.1:g.21009_21011del

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.185-2656_185-2654del ENSP00000484763.2:n.185-2656_185-2654del
ENST00000614423.5:c.129_131del ENSP00000481951.2:p.Lys43del
ENST00000616641.5:n.197_199del
ENST00000644488.2:n.201_203del
ENST00000394595.8:c.210_212del ENSP00000378095.4:p.Lys70del
ENST00000644488.1:n.273_275del
ENST00000644743.1:c.231_233del MANE Select ENSP00000495061.1:p.Lys77del
ENST00000645131.1:n.162_164del
ENST00000306732.7:c.231_233del ENSP00000304169.3:p.Lys77del
ENST00000354925.6:c.210_212del ENSP00000347004.2:p.Lys70del
ENST00000355080.9:c.72_74del ENSP00000347192.5:p.Lys24del
ENST00000394595.7:c.185-2656_185-2654del ENSP00000378095.3:n.185-2656_185-2654del
ENST00000394598.6:c.210_212del ENSP00000378097.2:p.Lys70del
ENST00000511837.5:c.210_212del ENSP00000421454.1:p.Lys70del
ENST00000511990.1:c.72_74del ENSP00000424142.1:p.Lys24del
ENST00000557119.2:c.231_233del ENSP00000475617.1:p.Lys77del
ENST00000613094.4:c.210_212del ENSP00000484763.1:p.Lys70del
ENST00000614423.4:c.210_212del ENSP00000481951.1:p.Lys70del
ENST00000616641.4:c.72_74del ENSP00000484909.1:p.Lys24del
NM_000325.5:c.231_233del NP_000316.2:p.Lys77del
NM_001204397.1:c.210_212del NP_001191326.1:p.Lys70del
NM_001204398.1:c.210_212del NP_001191327.1:p.Lys70del
NM_001204399.1:c.72_74del NP_001191328.1:p.Lys24del
NM_153426.2:c.210_212del NP_700475.1:p.Lys70del
NM_153427.2:c.72_74del NP_700476.1:p.Lys24del
XM_006714235.2:c.210_212del XP_006714298.1:p.Lys70del
XM_011532027.1:c.72_74del XP_011530329.1:p.Lys24del
XM_024454090.1:c.-124_-122del XP_024309858.1:n.-124_-122del
NM_000325.6:c.231_233del MANE Select NP_000316.2:p.Lys77del
NM_001204397.2:c.210_212del NP_001191326.1:p.Lys70del
NM_153426.3:c.210_212del NP_700475.1:p.Lys70del
NM_153427.3:c.72_74del NP_700476.1:p.Lys24del