Canonical Allele Identifier: CA554052398

Gene: PITX2

Linked Data

• dbSNP Id: rs1298011744
• gnomAD v2: 4-111542097-T-TGCCGCTCTGGGAGCCTGA
• gnomAD v3: 4-110620941-T-TGCCGCTCTGGGAGCCTGA
• gnomAD v4: 4-110620941-T-TGCCGCTCTGGGAGCCTGA
• MyVariant Identifiers: chr4:g.111542097_111542098insGCCGCTCTGGGAGCCTGA (hg19) ; chr4:g.110620941_110620942insGCCGCTCTGGGAGCCTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110620945_110620962dup , CM000666.2:g.110620945_110620962dup	GRCh38
NC_000004.11:g.111542101_111542118dup , CM000666.1:g.111542101_111542118dup	GRCh37
NC_000004.10:g.111761550_111761567dup	NCBI36
NG_007120.1:g.21394_21411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2271_185-2254dup	ENSP00000484763.2:n.185-2271_185-2254dup
ENST00000614423.5:c.309+205_309+222dup	ENSP00000481951.2:n.309+205_309+222dup
ENST00000616641.5:n.377+205_377+222dup
ENST00000644488.2:n.381+205_381+222dup
ENST00000394595.8:c.390+205_390+222dup	ENSP00000378095.4:n.390+205_390+222dup
ENST00000644488.1:n.453+205_453+222dup
ENST00000644743.1:c.411+205_411+222dup MANE Select	ENSP00000495061.1:n.411+205_411+222dup
ENST00000645131.1:n.342+205_342+222dup
ENST00000306732.7:c.411+205_411+222dup	ENSP00000304169.3:n.411+205_411+222dup
ENST00000354925.6:c.390+205_390+222dup	ENSP00000347004.2:n.390+205_390+222dup
ENST00000355080.9:c.252+205_252+222dup	ENSP00000347192.5:n.252+205_252+222dup
ENST00000394595.7:c.185-2271_185-2254dup	ENSP00000378095.3:n.185-2271_185-2254dup
ENST00000394598.6:c.390+205_390+222dup	ENSP00000378097.2:n.390+205_390+222dup
ENST00000511837.5:c.390+205_390+222dup	ENSP00000421454.1:n.390+205_390+222dup
ENST00000511990.1:c.252+205_252+222dup	ENSP00000424142.1:n.252+205_252+222dup
ENST00000557119.2:c.616_633dup	ENSP00000475617.1:p.Gly211_Thr212insSerGlySerGlnSerGly
ENST00000613094.4:c.390+205_390+222dup	ENSP00000484763.1:n.390+205_390+222dup
ENST00000614423.4:c.390+205_390+222dup	ENSP00000481951.1:n.390+205_390+222dup
ENST00000616641.4:c.252+205_252+222dup	ENSP00000484909.1:n.252+205_252+222dup
NM_000325.5:c.411+205_411+222dup	NP_000316.2:n.411+205_411+222dup
NM_001204397.1:c.390+205_390+222dup	NP_001191326.1:n.390+205_390+222dup
NM_001204398.1:c.390+205_390+222dup	NP_001191327.1:n.390+205_390+222dup
NM_001204399.1:c.252+205_252+222dup	NP_001191328.1:n.252+205_252+222dup
NM_153426.2:c.390+205_390+222dup	NP_700475.1:n.390+205_390+222dup
NM_153427.2:c.252+205_252+222dup	NP_700476.1:n.252+205_252+222dup
XM_006714235.2:c.390+205_390+222dup	XP_006714298.1:n.390+205_390+222dup
XM_011532027.1:c.252+205_252+222dup	XP_011530329.1:n.252+205_252+222dup
XM_024454090.1:c.57+205_57+222dup	XP_024309858.1:n.57+205_57+222dup
NM_000325.6:c.411+205_411+222dup MANE Select	NP_000316.2:n.411+205_411+222dup
NM_001204397.2:c.390+205_390+222dup	NP_001191326.1:n.390+205_390+222dup
NM_153426.3:c.390+205_390+222dup	NP_700475.1:n.390+205_390+222dup
NM_153427.3:c.252+205_252+222dup	NP_700476.1:n.252+205_252+222dup