Canonical Allele Identifier: CA128008834
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1051450953
MyVariant Identifiers: chr5:g.134364089_134364101del (hg19) chr5:g.135028399_135028411del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028403_135028415del , CM000667.2:g.135028403_135028415del GRCh38
NC_000005.9:g.134364093_134364105del , CM000667.1:g.134364093_134364105del GRCh37
NC_000005.8:g.134391992_134392004del NCBI36
NG_012114.1:g.10864_10876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*368_*380del MANE Select ENSP00000265340.6:n.*368_*380del
ENST00000265340.11:c.*368_*380del ENSP00000265340.6:n.*368_*380del
NM_002653.4:c.*368_*380del NP_002644.4:n.*368_*380del
NM_002653.5:c.*368_*380del MANE Select NP_002644.4:n.*368_*380del
Search 100 bp 5'
Search 100 bp 3'