Canonical Allele Identifier: CA2675354197

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031688-C-CTCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031689_135031692dup , CM000667.2:g.135031689_135031692dup	GRCh38
NC_000005.9:g.134367379_134367382dup , CM000667.1:g.134367379_134367382dup	GRCh37
NC_000005.8:g.134395278_134395281dup	NCBI36
NG_012114.1:g.7583_7586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-184_170-181dup MANE Select	ENSP00000265340.6:n.170-184_170-181dup
ENST00000265340.11:c.170-184_170-181dup	ENSP00000265340.6:n.170-184_170-181dup
ENST00000502676.1:c.170-184_170-181dup	ENSP00000423624.1:n.170-184_170-181dup
ENST00000503586.1:c.292-184_292-181dup
ENST00000504936.1:n.319_322dup
ENST00000506438.5:c.170-184_170-181dup	ENSP00000427542.1:n.170-184_170-181dup
ENST00000507253.5:c.170-184_170-181dup	ENSP00000422908.1:n.170-184_170-181dup
NM_002653.4:c.170-184_170-181dup	NP_002644.4:n.170-184_170-181dup
NM_002653.5:c.170-184_170-181dup MANE Select	NP_002644.4:n.170-184_170-181dup