Canonical Allele Identifier: CA1081831137

Gene: PITX1

Linked Data

• dbSNP Id: rs1580924904
• gnomAD v3: 5-135028477-C-CAA
• gnomAD v4: 5-135028477-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028477_135028478insAA , CM000667.2:g.135028477_135028478insAA	GRCh38
NC_000005.9:g.134364167_134364168insAA , CM000667.1:g.134364167_134364168insAA	GRCh37
NC_000005.8:g.134392066_134392067insAA	NCBI36
NG_012114.1:g.10797_10798insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*301_*302insTT MANE Select	ENSP00000265340.6:n.*301_*302insTT
ENST00000265340.11:c.*301_*302insTT	ENSP00000265340.6:n.*301_*302insTT
NM_002653.4:c.*301_*302insTT	NP_002644.4:n.*301_*302insTT
NM_002653.5:c.*301_*302insTT MANE Select	NP_002644.4:n.*301_*302insTT