Canonical Allele Identifier: CA2768505062

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028558_135028559insCTTTTTTTT , CM000667.2:g.135028558_135028559insCTTTTTTTT	GRCh38
NC_000005.9:g.134364248_134364249insCTTTTTTTT , CM000667.1:g.134364248_134364249insCTTTTTTTT	GRCh37
NC_000005.8:g.134392147_134392148insCTTTTTTTT	NCBI36
NG_012114.1:g.10724_10725insGAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*228_*229insGAAAAAAAA MANE Select	ENSP00000265340.6:n.*228_*229insGAAAAAAAA
ENST00000265340.11:c.*228_*229insGAAAAAAAA	ENSP00000265340.6:n.*228_*229insGAAAAAAAA
NM_002653.4:c.*228_*229insGAAAAAAAA	NP_002644.4:n.*228_*229insGAAAAAAAA
NM_002653.5:c.*228_*229insGAAAAAAAA MANE Select	NP_002644.4:n.*228_*229insGAAAAAAAA