Canonical Allele Identifier: CA2675354313

Gene: PITX1

Linked Data

• gnomAD v4: 5-135031827-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031831_135031832dup , CM000667.2:g.135031831_135031832dup	GRCh38
NC_000005.9:g.134367521_134367522dup , CM000667.1:g.134367521_134367522dup	GRCh37
NC_000005.8:g.134395420_134395421dup	NCBI36
NG_012114.1:g.7446_7447dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.170-321_170-320dup MANE Select	ENSP00000265340.6:n.170-321_170-320dup
ENST00000265340.11:c.170-321_170-320dup	ENSP00000265340.6:n.170-321_170-320dup
ENST00000502676.1:c.170-321_170-320dup	ENSP00000423624.1:n.170-321_170-320dup
ENST00000503586.1:c.292-321_292-320dup
ENST00000504936.1:n.182_183dup
ENST00000506438.5:c.170-321_170-320dup	ENSP00000427542.1:n.170-321_170-320dup
ENST00000507253.5:c.170-321_170-320dup	ENSP00000422908.1:n.170-321_170-320dup
NM_002653.4:c.170-321_170-320dup	NP_002644.4:n.170-321_170-320dup
NM_002653.5:c.170-321_170-320dup MANE Select	NP_002644.4:n.170-321_170-320dup