Canonical Allele Identifier: CA1584342406
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135031856_135031857delinsAG , CM000667.2:g.135031856_135031857delinsAG GRCh38
NC_000005.9:g.134367546_134367547delinsAG , CM000667.1:g.134367546_134367547delinsAG GRCh37
NC_000005.8:g.134395445_134395446delinsAG NCBI36
NG_012114.1:g.7418_7419delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.170-349_170-348delinsCT MANE Select ENSP00000265340.6:n.170-349_170-348delinsCT
ENST00000265340.11:c.170-349_170-348delinsCT ENSP00000265340.6:n.170-349_170-348delinsCT
ENST00000502676.1:c.170-349_170-348delinsCT ENSP00000423624.1:n.170-349_170-348delinsCT
ENST00000503586.1:c.292-349_292-348delinsCT
ENST00000504936.1:n.154_155delinsCT
ENST00000506438.5:c.170-349_170-348delinsCT ENSP00000427542.1:n.170-349_170-348delinsCT
ENST00000507253.5:c.170-349_170-348delinsCT ENSP00000422908.1:n.170-349_170-348delinsCT
NM_002653.4:c.170-349_170-348delinsCT NP_002644.4:n.170-349_170-348delinsCT
NM_002653.5:c.170-349_170-348delinsCT MANE Select NP_002644.4:n.170-349_170-348delinsCT