Canonical Allele Identifier: CA1081831301

Gene: PITX1

Linked Data

• gnomAD v3: 5-135028549-C-CTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 5-135028549-C-CTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028553_135028573dup , CM000667.2:g.135028553_135028573dup	GRCh38
NC_000005.9:g.134364243_134364263dup , CM000667.1:g.134364243_134364263dup	GRCh37
NC_000005.8:g.134392142_134392162dup	NCBI36
NG_012114.1:g.10705_10725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*209_*229dup MANE Select	ENSP00000265340.6:n.*209_*229dup
ENST00000265340.11:c.*209_*229dup	ENSP00000265340.6:n.*209_*229dup
NM_002653.4:c.*209_*229dup	NP_002644.4:n.*209_*229dup
NM_002653.5:c.*209_*229dup MANE Select	NP_002644.4:n.*209_*229dup