Canonical Allele Identifier: CA1584336128
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028542_135028545delinsCTTT , CM000667.2:g.135028542_135028545delinsCTTT GRCh38
NC_000005.9:g.134364232_134364235delinsCTTT , CM000667.1:g.134364232_134364235delinsCTTT GRCh37
NC_000005.8:g.134392131_134392134delinsCTTT NCBI36
NG_012114.1:g.10730_10733delinsAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*234_*237delinsAAAG MANE Select ENSP00000265340.6:n.*234_*237delinsAAAG
ENST00000265340.11:c.*234_*237delinsAAAG ENSP00000265340.6:n.*234_*237delinsAAAG
NM_002653.4:c.*234_*237delinsAAAG NP_002644.4:n.*234_*237delinsAAAG
NM_002653.5:c.*234_*237delinsAAAG MANE Select NP_002644.4:n.*234_*237delinsAAAG