Canonical Allele Identifier: CA104045010

Gene: PITX2

Linked Data

• dbSNP Id: rs988245750
• gnomAD v2: 4-111542221-C-CCAGG
• gnomAD v3: 4-110621065-C-CCAGG
• gnomAD v4: 4-110621065-C-CCAGG
• MyVariant Identifiers: chr4:g.111542221_111542222insCAGG (hg19) ; chr4:g.110621065_110621066insCAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621067_110621070dup , CM000666.2:g.110621067_110621070dup	GRCh38
NC_000004.11:g.111542223_111542226dup , CM000666.1:g.111542223_111542226dup	GRCh37
NC_000004.10:g.111761672_111761675dup	NCBI36
NG_007120.1:g.21284_21287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2381_185-2378dup	ENSP00000484763.2:n.185-2381_185-2378dup
ENST00000614423.5:c.309+95_309+98dup	ENSP00000481951.2:n.309+95_309+98dup
ENST00000616641.5:n.377+95_377+98dup
ENST00000644488.2:n.381+95_381+98dup
ENST00000394595.8:c.390+95_390+98dup	ENSP00000378095.4:n.390+95_390+98dup
ENST00000644488.1:n.453+95_453+98dup
ENST00000644743.1:c.411+95_411+98dup MANE Select	ENSP00000495061.1:n.411+95_411+98dup
ENST00000645131.1:n.342+95_342+98dup
ENST00000306732.7:c.411+95_411+98dup	ENSP00000304169.3:n.411+95_411+98dup
ENST00000354925.6:c.390+95_390+98dup	ENSP00000347004.2:n.390+95_390+98dup
ENST00000355080.9:c.252+95_252+98dup	ENSP00000347192.5:n.252+95_252+98dup
ENST00000394595.7:c.185-2381_185-2378dup	ENSP00000378095.3:n.185-2381_185-2378dup
ENST00000394598.6:c.390+95_390+98dup	ENSP00000378097.2:n.390+95_390+98dup
ENST00000511837.5:c.390+95_390+98dup	ENSP00000421454.1:n.390+95_390+98dup
ENST00000511990.1:c.252+95_252+98dup	ENSP00000424142.1:n.252+95_252+98dup
ENST00000557119.2:c.506_509dup	ENSP00000475617.1:p.Trp170CysfsTer?
ENST00000613094.4:c.390+95_390+98dup	ENSP00000484763.1:n.390+95_390+98dup
ENST00000614423.4:c.390+95_390+98dup	ENSP00000481951.1:n.390+95_390+98dup
ENST00000616641.4:c.252+95_252+98dup	ENSP00000484909.1:n.252+95_252+98dup
NM_000325.5:c.411+95_411+98dup	NP_000316.2:n.411+95_411+98dup
NM_001204397.1:c.390+95_390+98dup	NP_001191326.1:n.390+95_390+98dup
NM_001204398.1:c.390+95_390+98dup	NP_001191327.1:n.390+95_390+98dup
NM_001204399.1:c.252+95_252+98dup	NP_001191328.1:n.252+95_252+98dup
NM_153426.2:c.390+95_390+98dup	NP_700475.1:n.390+95_390+98dup
NM_153427.2:c.252+95_252+98dup	NP_700476.1:n.252+95_252+98dup
XM_006714235.2:c.390+95_390+98dup	XP_006714298.1:n.390+95_390+98dup
XM_011532027.1:c.252+95_252+98dup	XP_011530329.1:n.252+95_252+98dup
XM_024454090.1:c.57+95_57+98dup	XP_024309858.1:n.57+95_57+98dup
NM_000325.6:c.411+95_411+98dup MANE Select	NP_000316.2:n.411+95_411+98dup
NM_001204397.2:c.390+95_390+98dup	NP_001191326.1:n.390+95_390+98dup
NM_153426.3:c.390+95_390+98dup	NP_700475.1:n.390+95_390+98dup
NM_153427.3:c.252+95_252+98dup	NP_700476.1:n.252+95_252+98dup