Canonical Allele Identifier: CA128011622

Gene: PITX1

Linked Data

• dbSNP Id: rs879597322
• gnomAD v3: 5-135031872-A-AG
• gnomAD v4: 5-135031872-A-AG
• MyVariant Identifiers: chr5:g.134367562_134367563insG (hg19) ; chr5:g.135031872_135031873insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031877dup , CM000667.2:g.135031877dup	GRCh38
NC_000005.9:g.134367567dup , CM000667.1:g.134367567dup	GRCh37
NC_000005.8:g.134395466dup	NCBI36
NG_012114.1:g.7402dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-365dup MANE Select	ENSP00000265340.6:n.170-365dup
ENST00000265340.11:c.170-365dup	ENSP00000265340.6:n.170-365dup
ENST00000502676.1:c.170-365dup	ENSP00000423624.1:n.170-365dup
ENST00000503586.1:c.292-365dup
ENST00000504936.1:n.138dup
ENST00000506438.5:c.170-365dup	ENSP00000427542.1:n.170-365dup
ENST00000507253.5:c.170-365dup	ENSP00000422908.1:n.170-365dup
NM_002653.4:c.170-365dup	NP_002644.4:n.170-365dup
NM_002653.5:c.170-365dup MANE Select	NP_002644.4:n.170-365dup