Canonical Allele Identifier: CA562836048
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs70976561
gnomAD v2: 5-134364157-A-AACAC
gnomAD v3: 5-135028467-A-AACAC
gnomAD v4: 5-135028467-A-AACAC
MyVariant Identifiers: chr5:g.134364157_134364158insACAC (hg19) chr5:g.135028467_135028468insACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028474_135028477dup , CM000667.2:g.135028474_135028477dup GRCh38
NC_000005.9:g.134364164_134364167dup , CM000667.1:g.134364164_134364167dup GRCh37
NC_000005.8:g.134392063_134392066dup NCBI36
NG_012114.1:g.10804_10807dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*308_*311dup MANE Select ENSP00000265340.6:n.*308_*311dup
ENST00000265340.11:c.*308_*311dup ENSP00000265340.6:n.*308_*311dup
NM_002653.4:c.*308_*311dup NP_002644.4:n.*308_*311dup
NM_002653.5:c.*308_*311dup MANE Select NP_002644.4:n.*308_*311dup
Search 100 bp 5'
Search 100 bp 3'