Canonical Allele Identifier: CA1584336320

Gene: PITX1

Linked Data

• dbSNP Id: rs752712378

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028750_135028751insGGACCG , CM000667.2:g.135028750_135028751insGGACCG	GRCh38
NC_000005.9:g.134364440_134364441insGGACCG , CM000667.1:g.134364440_134364441insGGACCG	GRCh37
NC_000005.8:g.134392339_134392340insGGACCG	NCBI36
NG_012114.1:g.10524_10525insCGGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*28_*29insCGGTCC MANE Select	ENSP00000265340.6:n.*28_*29insCGGTCC
ENST00000265340.11:c.*28_*29insCGGTCC	ENSP00000265340.6:n.*28_*29insCGGTCC
ENST00000506438.5:c.*28_*29insCGGTCC	ENSP00000427542.1:n.*28_*29insCGGTCC
NM_002653.4:c.*28_*29insCGGTCC	NP_002644.4:n.*28_*29insCGGTCC
NM_002653.5:c.*28_*29insCGGTCC MANE Select	NP_002644.4:n.*28_*29insCGGTCC