Canonical Allele Identifier: CA650298465
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028747_135028748insT , CM000667.2:g.135028747_135028748insT GRCh38
NC_000005.9:g.134364437_134364438insT , CM000667.1:g.134364437_134364438insT GRCh37
NC_000005.8:g.134392336_134392337insT NCBI36
NG_012114.1:g.10527_10528insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*31_*32insA MANE Select ENSP00000265340.6:n.*31_*32insA
ENST00000265340.11:c.*31_*32insA ENSP00000265340.6:n.*31_*32insA
ENST00000506438.5:c.*31_*32insA ENSP00000427542.1:n.*31_*32insA
NM_002653.4:c.*31_*32insA NP_002644.4:n.*31_*32insA
NM_002653.5:c.*31_*32insA MANE Select NP_002644.4:n.*31_*32insA