Canonical Allele Identifier: CA562836076
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1300379323
gnomAD v2: 5-134364271-T-TG
gnomAD v3: 5-135028581-T-TG
gnomAD v4: 5-135028581-T-TG
MyVariant Identifiers: chr5:g.134364271_134364272insG (hg19) chr5:g.135028581_135028582insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028583dup , CM000667.2:g.135028583dup GRCh38
NC_000005.9:g.134364273dup , CM000667.1:g.134364273dup GRCh37
NC_000005.8:g.134392172dup NCBI36
NG_012114.1:g.10693dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*197dup MANE Select ENSP00000265340.6:n.*197dup
ENST00000265340.11:c.*197dup ENSP00000265340.6:n.*197dup
ENST00000506438.5:c.*197dup ENSP00000427542.1:n.*197dup
NM_002653.4:c.*197dup NP_002644.4:n.*197dup
NM_002653.5:c.*197dup MANE Select NP_002644.4:n.*197dup
Search 100 bp 5'
Search 100 bp 3'