Canonical Allele Identifier: CA804232264
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1420120207
MyVariant Identifiers: chr5:g.134364120_134364150del (hg19) chr5:g.135028430_135028460del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028434_135028464del , CM000667.2:g.135028434_135028464del GRCh38
NC_000005.9:g.134364124_134364154del , CM000667.1:g.134364124_134364154del GRCh37
NC_000005.8:g.134392023_134392053del NCBI36
NG_012114.1:g.10815_10845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*319_*349del MANE Select ENSP00000265340.6:n.*319_*349del
ENST00000265340.11:c.*319_*349del ENSP00000265340.6:n.*319_*349del
NM_002653.4:c.*319_*349del NP_002644.4:n.*319_*349del
NM_002653.5:c.*319_*349del MANE Select NP_002644.4:n.*319_*349del
Search 100 bp 5'
Search 100 bp 3'