Canonical Allele Identifier: CA1485100719

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110620879_110620903delinsTGCAGGGGATTGCCCATGCAGCCCA , CM000666.2:g.110620879_110620903delinsTGCAGGGGATTGCCCATGCAGCCCA	GRCh38
NC_000004.11:g.111542035_111542059delinsTGCAGGGGATTGCCCATGCAGCCCA , CM000666.1:g.111542035_111542059delinsTGCAGGGGATTGCCCATGCAGCCCA	GRCh37
NC_000004.10:g.111761484_111761508delinsTGCAGGGGATTGCCCATGCAGCCCA	NCBI36
NG_007120.1:g.21450_21474delinsTGGGCTGCATGGGCAATCCCCTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2215_185-2191delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000484763.2:n.185-2215_185-2191delinsTGGGCTGCATGGGCAATC...
ENST00000614423.5:c.309+261_309+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000481951.2:n.309+261_309+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000616641.5:n.377+261_377+285delinsTGGGCTGCATGGGCAATCCCCTGCA
ENST00000644488.2:n.381+261_381+285delinsTGGGCTGCATGGGCAATCCCCTGCA
ENST00000394595.8:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000378095.4:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000644488.1:n.453+261_453+285delinsTGGGCTGCATGGGCAATCCCCTGCA
ENST00000644743.1:c.411+261_411+285delinsTGGGCTGCATGGGCAATCCCCTGCA MANE Select	ENSP00000495061.1:n.411+261_411+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000645131.1:n.342+261_342+285delinsTGGGCTGCATGGGCAATCCCCTGCA
ENST00000306732.7:c.411+261_411+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000304169.3:n.411+261_411+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000354925.6:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000347004.2:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000355080.9:c.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000347192.5:n.252+261_252+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000394595.7:c.185-2215_185-2191delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000378095.3:n.185-2215_185-2191delinsTGGGCTGCATGGGCAATC...
ENST00000394598.6:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000378097.2:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000511837.5:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000421454.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000511990.1:c.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000424142.1:n.252+261_252+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000557119.2:c.672_696delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000475617.1:p.Ala224=
ENST00000613094.4:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000484763.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000614423.4:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000481951.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCC...
ENST00000616641.4:c.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA	ENSP00000484909.1:n.252+261_252+285delinsTGGGCTGCATGGGCAATCCC...
NM_000325.5:c.411+261_411+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_000316.2:n.411+261_411+285delinsTGGGCTGCATGGGCAATCCCCTGCA
NM_001204397.1:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_001191326.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTG...
NM_001204398.1:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_001191327.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTG...
NM_001204399.1:c.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_001191328.1:n.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTG...
NM_153426.2:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_700475.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA
NM_153427.2:c.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_700476.1:n.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA
XM_006714235.2:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	XP_006714298.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTG...
XM_011532027.1:c.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA	XP_011530329.1:n.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTG...
XM_024454090.1:c.57+261_57+285delinsTGGGCTGCATGGGCAATCCCCTGCA	XP_024309858.1:n.57+261_57+285delinsTGGGCTGCATGGGCAATCCCCTGCA...
NM_000325.6:c.411+261_411+285delinsTGGGCTGCATGGGCAATCCCCTGCA MANE Select	NP_000316.2:n.411+261_411+285delinsTGGGCTGCATGGGCAATCCCCTGCA
NM_001204397.2:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_001191326.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTG...
NM_153426.3:c.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_700475.1:n.390+261_390+285delinsTGGGCTGCATGGGCAATCCCCTGCA
NM_153427.3:c.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA	NP_700476.1:n.252+261_252+285delinsTGGGCTGCATGGGCAATCCCCTGCA