Canonical Allele Identifier: CA2675354037

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031348-C-CCTCTGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031350_135031357dup , CM000667.2:g.135031350_135031357dup	GRCh38
NC_000005.9:g.134367040_134367047dup , CM000667.1:g.134367040_134367047dup	GRCh37
NC_000005.8:g.134394939_134394946dup	NCBI36
NG_012114.1:g.7919_7926dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.322_329dup MANE Select	ENSP00000265340.6:p.Arg110SerfsTer10
ENST00000265340.11:c.322_329dup	ENSP00000265340.6:p.Arg110SerfsTer10
ENST00000502676.1:c.322_329dup	ENSP00000423624.1:p.Arg110SerfsTer?
ENST00000503586.1:c.444_451dup
ENST00000504936.1:n.655_662dup
ENST00000506438.5:c.322_329dup	ENSP00000427542.1:p.Arg110SerfsTer10
ENST00000507253.5:c.322_329dup	ENSP00000422908.1:p.Arg110SerfsTer10
NM_002653.4:c.322_329dup	NP_002644.4:p.Arg110SerfsTer10
NM_002653.5:c.322_329dup MANE Select	NP_002644.4:p.Arg110SerfsTer10