Canonical Allele Identifier: CA1584336111
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028520_135028521delinsTC , CM000667.2:g.135028520_135028521delinsTC GRCh38
NC_000005.9:g.134364210_134364211delinsTC , CM000667.1:g.134364210_134364211delinsTC GRCh37
NC_000005.8:g.134392109_134392110delinsTC NCBI36
NG_012114.1:g.10754_10755delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*258_*259delinsGA MANE Select ENSP00000265340.6:n.*258_*259delinsGA
ENST00000265340.11:c.*258_*259delinsGA ENSP00000265340.6:n.*258_*259delinsGA
NM_002653.4:c.*258_*259delinsGA NP_002644.4:n.*258_*259delinsGA
NM_002653.5:c.*258_*259delinsGA MANE Select NP_002644.4:n.*258_*259delinsGA