Canonical Allele Identifier: CA2507420393

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028443_135028444insGTGGTGTGTGTG , CM000667.2:g.135028443_135028444insGTGGTGTGTGTG	GRCh38
NC_000005.9:g.134364133_134364134insGTGGTGTGTGTG , CM000667.1:g.134364133_134364134insGTGGTGTGTGTG	GRCh37
NC_000005.8:g.134392032_134392033insGTGGTGTGTGTG	NCBI36
NG_012114.1:g.10832_10833insACACACACCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*336_*337insACACACACCACC MANE Select	ENSP00000265340.6:n.*336_*337insACACACACCACC
ENST00000265340.11:c.*336_*337insACACACACCACC	ENSP00000265340.6:n.*336_*337insACACACACCACC
NM_002653.4:c.*336_*337insACACACACCACC	NP_002644.4:n.*336_*337insACACACACCACC
NM_002653.5:c.*336_*337insACACACACCACC MANE Select	NP_002644.4:n.*336_*337insACACACACCACC