Canonical Allele Identifier: CA1485137054
Gene: PITX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110617701_110617702delinsCT , CM000666.2:g.110617701_110617702delinsCT GRCh38
NC_000004.11:g.111538857_111538858delinsCT , CM000666.1:g.111538857_111538858delinsCT GRCh37
NC_000004.10:g.111758306_111758307delinsCT NCBI36
NG_007120.1:g.24651_24652delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.*646_*647delinsAG ENSP00000484763.2:n.*646_*647delinsAG
ENST00000614423.5:c.*423_*424delinsAG ENSP00000481951.2:n.*423_*424delinsAG
ENST00000394595.8:c.*423_*424delinsAG ENSP00000378095.4:n.*423_*424delinsAG
ENST00000644488.1:n.1440_1441delinsAG
ENST00000644743.1:c.*423_*424delinsAG MANE Select ENSP00000495061.1:n.*423_*424delinsAG
ENST00000645131.1:n.1329_1330delinsAG
ENST00000306732.7:c.*423_*424delinsAG ENSP00000304169.3:n.*423_*424delinsAG
ENST00000354925.6:c.*423_*424delinsAG ENSP00000347004.2:n.*423_*424delinsAG
ENST00000355080.9:c.*423_*424delinsAG ENSP00000347192.5:n.*423_*424delinsAG
ENST00000394595.7:c.*646_*647delinsAG ENSP00000378095.3:n.*646_*647delinsAG
ENST00000394598.6:c.*423_*424delinsAG ENSP00000378097.2:n.*423_*424delinsAG
ENST00000607868.1:n.1125_1126delinsAG
ENST00000613094.4:c.*423_*424delinsAG ENSP00000484763.1:n.*423_*424delinsAG
ENST00000614423.4:c.*423_*424delinsAG ENSP00000481951.1:n.*423_*424delinsAG
ENST00000616641.4:c.*423_*424delinsAG ENSP00000484909.1:n.*423_*424delinsAG
NM_000325.5:c.*423_*424delinsAG NP_000316.2:n.*423_*424delinsAG
NM_001204397.1:c.*423_*424delinsAG NP_001191326.1:n.*423_*424delinsAG
NM_001204398.1:c.*423_*424delinsAG NP_001191327.1:n.*423_*424delinsAG
NM_001204399.1:c.*423_*424delinsAG NP_001191328.1:n.*423_*424delinsAG
NM_153426.2:c.*423_*424delinsAG NP_700475.1:n.*423_*424delinsAG
NM_153427.2:c.*423_*424delinsAG NP_700476.1:n.*423_*424delinsAG
XM_006714235.2:c.*423_*424delinsAG XP_006714298.1:n.*423_*424delinsAG
XM_011532027.1:c.*423_*424delinsAG XP_011530329.1:n.*423_*424delinsAG
XM_024454090.1:c.*423_*424delinsAG XP_024309858.1:n.*423_*424delinsAG
NM_000325.6:c.*423_*424delinsAG MANE Select NP_000316.2:n.*423_*424delinsAG
NM_001204397.2:c.*423_*424delinsAG NP_001191326.1:n.*423_*424delinsAG
NM_153426.3:c.*423_*424delinsAG NP_700475.1:n.*423_*424delinsAG
NM_153427.3:c.*423_*424delinsAG NP_700476.1:n.*423_*424delinsAG