Canonical Allele Identifier: CA650298458
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028416_135028417insT , CM000667.2:g.135028416_135028417insT GRCh38
NC_000005.9:g.134364106_134364107insT , CM000667.1:g.134364106_134364107insT GRCh37
NC_000005.8:g.134392005_134392006insT NCBI36
NG_012114.1:g.10858_10859insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*362_*363insA MANE Select ENSP00000265340.6:n.*362_*363insA
ENST00000265340.11:c.*362_*363insA ENSP00000265340.6:n.*362_*363insA
NM_002653.4:c.*362_*363insA NP_002644.4:n.*362_*363insA
NM_002653.5:c.*362_*363insA MANE Select NP_002644.4:n.*362_*363insA