Canonical Allele Identifier: CA16044257
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375436
ClinVar RCV Id: RCV000416516
dbSNP Id: rs1057519483
MyVariant Identifiers: chr4:g.111542367_111542388del (hg19) chr4:g.110621211_110621232del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621213_110621234del , CM000666.2:g.110621213_110621234del GRCh38
NC_000004.11:g.111542369_111542390del , CM000666.1:g.111542369_111542390del GRCh37
NC_000004.10:g.111761818_111761839del NCBI36
NG_007120.1:g.21121_21142del

Transcript Alleles

HGVS Amino-acid change
ENST00000613094.5:c.185-2544_185-2523del ENSP00000484763.2:n.185-2544_185-2523del
ENST00000614423.5:c.241_262del ENSP00000481951.2:p.Arg81AlafsTer?
ENST00000616641.5:n.309_330del
ENST00000644488.2:n.313_334del
ENST00000394595.8:c.322_343del ENSP00000378095.4:p.Arg108AlafsTer?
ENST00000644488.1:n.385_406del
ENST00000644743.1:c.343_364del MANE Select ENSP00000495061.1:p.Arg115AlafsTer?
ENST00000645131.1:n.274_295del
ENST00000306732.7:c.343_364del ENSP00000304169.3:p.Arg115AlafsTer?
ENST00000354925.6:c.322_343del ENSP00000347004.2:p.Arg108AlafsTer?
ENST00000355080.9:c.184_205del ENSP00000347192.5:p.Arg62AlafsTer?
ENST00000394595.7:c.185-2544_185-2523del ENSP00000378095.3:n.185-2544_185-2523del
ENST00000394598.6:c.322_343del ENSP00000378097.2:p.Arg108AlafsTer?
ENST00000511837.5:c.322_343del ENSP00000421454.1:p.Arg108AlafsTer?
ENST00000511990.1:c.184_205del ENSP00000424142.1:p.Arg62AlafsTer?
ENST00000557119.2:c.343_364del ENSP00000475617.1:p.Arg115AlafsTer17
ENST00000613094.4:c.322_343del ENSP00000484763.1:p.Arg108AlafsTer?
ENST00000614423.4:c.322_343del ENSP00000481951.1:p.Arg108AlafsTer?
ENST00000616641.4:c.184_205del ENSP00000484909.1:p.Arg62AlafsTer?
NM_000325.5:c.343_364del NP_000316.2:p.Arg115AlafsTer?
NM_001204397.1:c.322_343del NP_001191326.1:p.Arg108AlafsTer?
NM_001204398.1:c.322_343del NP_001191327.1:p.Arg108AlafsTer?
NM_001204399.1:c.184_205del NP_001191328.1:p.Arg62AlafsTer?
NM_153426.2:c.322_343del NP_700475.1:p.Arg108AlafsTer?
NM_153427.2:c.184_205del NP_700476.1:p.Arg62AlafsTer?
XM_006714235.2:c.322_343del XP_006714298.1:p.Arg108AlafsTer?
XM_011532027.1:c.184_205del XP_011530329.1:p.Arg62AlafsTer?
XM_024454090.1:c.-12_10del
NM_000325.6:c.343_364del MANE Select NP_000316.2:p.Arg115AlafsTer?
NM_001204397.2:c.322_343del NP_001191326.1:p.Arg108AlafsTer?
NM_153426.3:c.322_343del NP_700475.1:p.Arg108AlafsTer?
NM_153427.3:c.184_205del NP_700476.1:p.Arg62AlafsTer?
Search 100 bp 5'
Search 100 bp 3'