Canonical Allele Identifier: CA1584341804

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031413_135031416delinsGCTT , CM000667.2:g.135031413_135031416delinsGCTT	GRCh38
NC_000005.9:g.134367103_134367106delinsGCTT , CM000667.1:g.134367103_134367106delinsGCTT	GRCh37
NC_000005.8:g.134395002_134395005delinsGCTT	NCBI36
NG_012114.1:g.7859_7862delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.262_265delinsAAGC MANE Select	ENSP00000265340.6:p.Lys88=
ENST00000265340.11:c.262_265delinsAAGC	ENSP00000265340.6:p.Lys88=
ENST00000502676.1:c.262_265delinsAAGC	ENSP00000423624.1:p.Lys88=
ENST00000503586.1:c.384_387delinsAAGC
ENST00000504936.1:n.595_598delinsAAGC
ENST00000506438.5:c.262_265delinsAAGC	ENSP00000427542.1:p.Lys88=
ENST00000507253.5:c.262_265delinsAAGC	ENSP00000422908.1:p.Lys88=
NM_002653.4:c.262_265delinsAAGC	NP_002644.4:p.Lys88=
NM_002653.5:c.262_265delinsAAGC MANE Select	NP_002644.4:p.Lys88=