Canonical Allele Identifier: CA1139658596
Community Standard Title: NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174Ter)
Gene: PITX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618577_110618578delinsTT , CM000666.2:g.110618577_110618578delinsTT GRCh38
NC_000004.11:g.111539733_111539734delinsTT , CM000666.1:g.111539733_111539734delinsTT GRCh37
NC_000004.10:g.111759182_111759183delinsTT NCBI36
NG_007120.1:g.23775_23776delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_000325.6:c.522_523delinsAA MANE Select NP_000316.2:p.Tyr174Ter
ENST00000644743.1:c.522_523delinsAA MANE Select ENSP00000495061.1:p.Tyr174Ter
NM_000325.5:c.522_523delinsAA NP_000316.2:p.Tyr174Ter
NM_001204397.1:c.501_502delinsAA NP_001191326.1:p.Tyr167Ter
NM_001204397.2:c.501_502delinsAA NP_001191326.1:p.Tyr167Ter
NM_001204398.1:c.501_502delinsAA NP_001191327.1:p.Tyr167Ter
NM_001204399.1:c.363_364delinsAA NP_001191328.1:p.Tyr121Ter
NM_153426.2:c.501_502delinsAA NP_700475.1:p.Tyr167Ter
NM_153426.3:c.501_502delinsAA NP_700475.1:p.Tyr167Ter
NM_153427.2:c.363_364delinsAA NP_700476.1:p.Tyr121Ter
NM_153427.3:c.363_364delinsAA NP_700476.1:p.Tyr121Ter
ENST00000306732.7:c.522_523delinsAA ENSP00000304169.3:p.Tyr174Ter
ENST00000354925.6:c.501_502delinsAA ENSP00000347004.2:p.Tyr167Ter
ENST00000355080.9:c.363_364delinsAA ENSP00000347192.5:p.Tyr121Ter
ENST00000394595.7:c.295_296delinsAA ENSP00000378095.3:p.Arg99Lys
ENST00000394595.8:c.501_502delinsAA ENSP00000378095.4:p.Tyr167Ter
ENST00000394598.6:c.501_502delinsAA ENSP00000378097.2:p.Tyr167Ter
ENST00000511837.5:c.501_502delinsAA ENSP00000421454.1:p.Tyr167Ter
ENST00000556049.1:n.828_829delinsAA
ENST00000607868.1:n.249_250delinsAA
ENST00000613094.4:c.501_502delinsAA ENSP00000484763.1:p.Tyr167Ter
ENST00000613094.5:c.295_296delinsAA ENSP00000484763.2:p.Arg99Lys
ENST00000614423.4:c.501_502delinsAA ENSP00000481951.1:p.Tyr167Ter
ENST00000614423.5:c.420_421delinsAA ENSP00000481951.2:p.Tyr140Ter
ENST00000616641.4:c.363_364delinsAA ENSP00000484909.1:p.Tyr121Ter
ENST00000616641.5:n.488_489delinsAA
ENST00000644488.1:n.564_565delinsAA
ENST00000644488.2:n.492_493delinsAA
ENST00000645131.1:n.453_454delinsAA
XM_006714235.2:c.501_502delinsAA XP_006714298.1:p.Tyr167Ter
XM_011532027.1:c.363_364delinsAA XP_011530329.1:p.Tyr121Ter
XM_024454090.1:c.168_169delinsAA XP_024309858.1:p.Tyr56Ter