Canonical Allele Identifier: CA16044253
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375441
ClinVar RCV Id: RCV000416496
dbSNP Id: rs1057519488
MyVariant Identifiers: chr4:g.111539471_111539472del (hg19) chr4:g.110618315_110618316del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618315_110618316del , CM000666.2:g.110618315_110618316del GRCh38
NC_000004.11:g.111539471_111539472del , CM000666.1:g.111539471_111539472del GRCh37
NC_000004.10:g.111758920_111758921del NCBI36
NG_007120.1:g.24037_24038del

Transcript Alleles

HGVS Amino-acid change
ENST00000613094.5:c.*32_*33del ENSP00000484763.2:n.*32_*33del
ENST00000614423.5:c.682_683del ENSP00000481951.2:p.Ser228ArgfsTer19
ENST00000616641.5:n.750_751del
ENST00000644488.2:n.754_755del
ENST00000394595.8:c.763_764del ENSP00000378095.4:p.Ser255ArgfsTer19
ENST00000644488.1:n.826_827del
ENST00000644743.1:c.784_785del MANE Select ENSP00000495061.1:p.Ser262ArgfsTer19
ENST00000645131.1:n.715_716del
ENST00000306732.7:c.784_785del ENSP00000304169.3:p.Ser262ArgfsTer19
ENST00000354925.6:c.763_764del ENSP00000347004.2:p.Ser255ArgfsTer19
ENST00000355080.9:c.625_626del ENSP00000347192.5:p.Ser209ArgfsTer19
ENST00000394595.7:c.*32_*33del ENSP00000378095.3:n.*32_*33del
ENST00000394598.6:c.763_764del ENSP00000378097.2:p.Ser255ArgfsTer19
ENST00000511837.5:c.763_764del ENSP00000421454.1:p.Ser255ArgfsTer19
ENST00000607868.1:n.511_512del
ENST00000613094.4:c.763_764del ENSP00000484763.1:p.Ser255ArgfsTer19
ENST00000614423.4:c.763_764del ENSP00000481951.1:p.Ser255ArgfsTer19
ENST00000616641.4:c.625_626del ENSP00000484909.1:p.Ser209ArgfsTer19
NM_000325.5:c.784_785del NP_000316.2:p.Ser262ArgfsTer19
NM_001204397.1:c.763_764del NP_001191326.1:p.Ser255ArgfsTer19
NM_001204398.1:c.763_764del NP_001191327.1:p.Ser255ArgfsTer19
NM_001204399.1:c.625_626del NP_001191328.1:p.Ser209ArgfsTer19
NM_153426.2:c.763_764del NP_700475.1:p.Ser255ArgfsTer19
NM_153427.2:c.625_626del NP_700476.1:p.Ser209ArgfsTer19
XM_006714235.2:c.763_764del XP_006714298.1:p.Ser255ArgfsTer19
XM_011532027.1:c.625_626del XP_011530329.1:p.Ser209ArgfsTer19
XM_024454090.1:c.430_431del XP_024309858.1:p.Ser144ArgfsTer19
NM_000325.6:c.784_785del MANE Select NP_000316.2:p.Ser262ArgfsTer19
NM_001204397.2:c.763_764del NP_001191326.1:p.Ser255ArgfsTer19
NM_153426.3:c.763_764del NP_700475.1:p.Ser255ArgfsTer19
NM_153427.3:c.625_626del NP_700476.1:p.Ser209ArgfsTer19
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