Canonical Allele Identifier: CA562836074
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1328659651
gnomAD v2: 5-134364263-TG-T
gnomAD v3: 5-135028573-TG-T
gnomAD v4: 5-135028573-TG-T
MyVariant Identifiers: chr5:g.134364264del (hg19) chr5:g.134364264_134364266delinsTC (hg19) chr5:g.135028574del (hg38) chr5:g.135028574_135028576delinsTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028574del , CM000667.2:g.135028574del GRCh38
NC_000005.9:g.134364264del , CM000667.1:g.134364264del GRCh37
NC_000005.8:g.134392163del NCBI36
NG_012114.1:g.10701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*205del MANE Select ENSP00000265340.6:n.*205del
ENST00000265340.11:c.*205del ENSP00000265340.6:n.*205del
ENST00000506438.5:c.*205del ENSP00000427542.1:n.*205del
NM_002653.4:c.*205del NP_002644.4:n.*205del
NM_002653.5:c.*205del MANE Select NP_002644.4:n.*205del
Search 100 bp 5'
Search 100 bp 3'