Canonical Allele Identifier: CA2763077563

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617603_110617606del , CM000666.2:g.110617603_110617606del	GRCh38
NC_000004.11:g.111538759_111538762del , CM000666.1:g.111538759_111538762del	GRCh37
NC_000004.10:g.111758208_111758211del	NCBI36
NG_007120.1:g.24747_24750del

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*742_*745del	ENSP00000484763.2:n.*742_*745del
ENST00000614423.5:c.*519_*522del	ENSP00000481951.2:n.*519_*522del
ENST00000394595.8:c.*519_*522del	ENSP00000378095.4:n.*519_*522del
ENST00000644488.1:n.1536_1539del
ENST00000644743.1:c.*519_*522del MANE Select	ENSP00000495061.1:n.*519_*522del
ENST00000645131.1:n.1425_1428del
ENST00000306732.7:c.*519_*522del	ENSP00000304169.3:n.*519_*522del
ENST00000354925.6:c.*519_*522del	ENSP00000347004.2:n.*519_*522del
ENST00000355080.9:c.*519_*522del	ENSP00000347192.5:n.*519_*522del
ENST00000394595.7:c.*742_*745del	ENSP00000378095.3:n.*742_*745del
ENST00000394598.6:c.*519_*522del	ENSP00000378097.2:n.*519_*522del
ENST00000607868.1:n.1221_1224del
ENST00000613094.4:c.*519_*522del	ENSP00000484763.1:n.*519_*522del
ENST00000614423.4:c.*519_*522del	ENSP00000481951.1:n.*519_*522del
ENST00000616641.4:c.*519_*522del	ENSP00000484909.1:n.*519_*522del
NM_000325.5:c.*519_*522del	NP_000316.2:n.*519_*522del
NM_001204397.1:c.*519_*522del	NP_001191326.1:n.*519_*522del
NM_001204398.1:c.*519_*522del	NP_001191327.1:n.*519_*522del
NM_001204399.1:c.*519_*522del	NP_001191328.1:n.*519_*522del
NM_153426.2:c.*519_*522del	NP_700475.1:n.*519_*522del
NM_153427.2:c.*519_*522del	NP_700476.1:n.*519_*522del
XM_006714235.2:c.*519_*522del	XP_006714298.1:n.*519_*522del
XM_011532027.1:c.*519_*522del	XP_011530329.1:n.*519_*522del
XM_024454090.1:c.*519_*522del	XP_024309858.1:n.*519_*522del
NM_000325.6:c.*519_*522del MANE Select	NP_000316.2:n.*519_*522del
NM_001204397.2:c.*519_*522del	NP_001191326.1:n.*519_*522del
NM_153426.3:c.*519_*522del	NP_700475.1:n.*519_*522del
NM_153427.3:c.*519_*522del	NP_700476.1:n.*519_*522del