Canonical Allele Identifier: CA2671769411

Gene: PITX2

Linked Data

• gnomAD v4: 4-110618757-C-CCAACCCCCGCCTTCCCCCGACACAGCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618781_110618782insGCCCCCACAACCCCCGCCTTCCCCCGACACA , CM000666.2:g.110618781_110618782insGCCCCCACAACCCCCGCCTTCCCCCGACACA	GRCh38
NC_000004.11:g.111539937_111539938insGCCCCCACAACCCCCGCCTTCCCCCGACACA , CM000666.1:g.111539937_111539938insGCCCCCACAACCCCCGCCTTCCCCCGACACA	GRCh37
NC_000004.10:g.111759386_111759387insGCCCCCACAACCCCCGCCTTCCCCCGACACA	NCBI36
NG_007120.1:g.23595_23596insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-70_185-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000484763.2:n.185-70_185-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000614423.5:c.310-70_310-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000481951.2:n.310-70_310-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000616641.5:n.378-70_378-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG
ENST00000644488.2:n.382-70_382-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG
ENST00000394595.8:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000378095.4:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000644488.1:n.454-70_454-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG
ENST00000644743.1:c.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG MANE Select	ENSP00000495061.1:n.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000645131.1:n.343-70_343-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG
ENST00000306732.7:c.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000304169.3:n.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000354925.6:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000347004.2:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000355080.9:c.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000347192.5:n.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000394595.7:c.185-70_185-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000378095.3:n.185-70_185-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000394598.6:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000378097.2:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000511837.5:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000421454.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000511990.1:c.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000424142.1:n.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000556049.1:n.718-70_718-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG
ENST00000607868.1:n.69_70insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG
ENST00000613094.4:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000484763.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000614423.4:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000481951.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
ENST00000616641.4:c.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	ENSP00000484909.1:n.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGG...
NM_000325.5:c.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_000316.2:n.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG...
NM_001204397.1:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_001191326.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGG...
NM_001204398.1:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_001191327.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGG...
NM_001204399.1:c.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_001191328.1:n.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGG...
NM_153426.2:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_700475.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG...
NM_153427.2:c.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_700476.1:n.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG...
XM_006714235.2:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	XP_006714298.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGG...
XM_011532027.1:c.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	XP_011530329.1:n.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGG...
XM_024454090.1:c.58-70_58-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	XP_024309858.1:n.58-70_58-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTT...
NM_000325.6:c.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG MANE Select	NP_000316.2:n.412-70_412-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG...
NM_001204397.2:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_001191326.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGG...
NM_153426.3:c.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_700475.1:n.391-70_391-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG...
NM_153427.3:c.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG	NP_700476.1:n.253-70_253-69insTGGGGGCTGTGTCGGGGGAAGGCGGGGGTTG...