Canonical Allele Identifier: CA1584336134
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028546_135028549delinsTTGC , CM000667.2:g.135028546_135028549delinsTTGC GRCh38
NC_000005.9:g.134364236_134364239delinsTTGC , CM000667.1:g.134364236_134364239delinsTTGC GRCh37
NC_000005.8:g.134392135_134392138delinsTTGC NCBI36
NG_012114.1:g.10726_10729delinsGCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*230_*233delinsGCAA MANE Select ENSP00000265340.6:n.*230_*233delinsGCAA
ENST00000265340.11:c.*230_*233delinsGCAA ENSP00000265340.6:n.*230_*233delinsGCAA
NM_002653.4:c.*230_*233delinsGCAA NP_002644.4:n.*230_*233delinsGCAA
NM_002653.5:c.*230_*233delinsGCAA MANE Select NP_002644.4:n.*230_*233delinsGCAA