Canonical Allele Identifier: CA1081831229

Gene: PITX1

Linked Data

• dbSNP Id: rs1752389998
• gnomAD v3: 5-135028548-G-GCTTTTTTTTTTT
• gnomAD v4: 5-135028548-G-GCTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028549_135028560dup , CM000667.2:g.135028549_135028560dup	GRCh38
NC_000005.9:g.134364239_134364250dup , CM000667.1:g.134364239_134364250dup	GRCh37
NC_000005.8:g.134392138_134392149dup	NCBI36
NG_012114.1:g.10715_10726dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*219_*230dup MANE Select	ENSP00000265340.6:n.*219_*230dup
ENST00000265340.11:c.*219_*230dup	ENSP00000265340.6:n.*219_*230dup
NM_002653.4:c.*219_*230dup	NP_002644.4:n.*219_*230dup
NM_002653.5:c.*219_*230dup MANE Select	NP_002644.4:n.*219_*230dup