Canonical Allele Identifier: CA2710326781
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs2149559218
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028731_135028735del , CM000667.2:g.135028731_135028735del GRCh38
NC_000005.9:g.134364421_134364425del , CM000667.1:g.134364421_134364425del GRCh37
NC_000005.8:g.134392320_134392324del NCBI36
NG_012114.1:g.10542_10546del

Transcript Alleles

HGVS Amino-acid change
ENST00000265340.12:c.*46_*50del MANE Select ENSP00000265340.6:n.*46_*50del
ENST00000265340.11:c.*46_*50del ENSP00000265340.6:n.*46_*50del
ENST00000506438.5:c.*46_*50del ENSP00000427542.1:n.*46_*50del
NM_002653.4:c.*46_*50del NP_002644.4:n.*46_*50del
NM_002653.5:c.*46_*50del MANE Select NP_002644.4:n.*46_*50del
Search 100 bp 5'
Search 100 bp 3'