Canonical Allele Identifier: CA1584336167

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028571_135028576delinsTTTGTC , CM000667.2:g.135028571_135028576delinsTTTGTC	GRCh38
NC_000005.9:g.134364261_134364266delinsTTTGTC , CM000667.1:g.134364261_134364266delinsTTTGTC	GRCh37
NC_000005.8:g.134392160_134392165delinsTTTGTC	NCBI36
NG_012114.1:g.10699_10704delinsGACAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*203_*208delinsGACAAA MANE Select	ENSP00000265340.6:n.*203_*208delinsGACAAA
ENST00000265340.11:c.*203_*208delinsGACAAA	ENSP00000265340.6:n.*203_*208delinsGACAAA
ENST00000506438.5:c.*203_*208delinsGACAAA	ENSP00000427542.1:n.*203_*208delinsGACAAA
NM_002653.4:c.*203_*208delinsGACAAA	NP_002644.4:n.*203_*208delinsGACAAA
NM_002653.5:c.*203_*208delinsGACAAA MANE Select	NP_002644.4:n.*203_*208delinsGACAAA