Canonical Allele Identifier: CA2675354039

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031389-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031390_135031391del , CM000667.2:g.135031390_135031391del	GRCh38
NC_000005.9:g.134367080_134367081del , CM000667.1:g.134367080_134367081del	GRCh37
NC_000005.8:g.134394979_134394980del	NCBI36
NG_012114.1:g.7884_7885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.287_288del MANE Select	ENSP00000265340.6:p.Phe96TyrfsTer?
ENST00000265340.11:c.287_288del	ENSP00000265340.6:p.Phe96TyrfsTer?
ENST00000502676.1:c.287_288del	ENSP00000423624.1:p.Phe96TyrfsTer?
ENST00000503586.1:c.409_410del
ENST00000504936.1:n.620_621del
ENST00000506438.5:c.287_288del	ENSP00000427542.1:p.Phe96TyrfsTer?
ENST00000507253.5:c.287_288del	ENSP00000422908.1:p.Phe96TyrfsTer?
NM_002653.4:c.287_288del	NP_002644.4:p.Phe96TyrfsTer?
NM_002653.5:c.287_288del MANE Select	NP_002644.4:p.Phe96TyrfsTer?