Canonical Allele Identifier: CA804232444
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs70976562

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028561_135028573del , CM000667.2:g.135028561_135028573del GRCh38
NC_000005.9:g.134364251_134364263del , CM000667.1:g.134364251_134364263del GRCh37
NC_000005.8:g.134392150_134392162del NCBI36
NG_012114.1:g.10713_10725del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*217_*229del MANE Select ENSP00000265340.6:n.*217_*229del
ENST00000265340.11:c.*217_*229del ENSP00000265340.6:n.*217_*229del
NM_002653.4:c.*217_*229del NP_002644.4:n.*217_*229del
NM_002653.5:c.*217_*229del MANE Select NP_002644.4:n.*217_*229del