Canonical Allele Identifier: CA2675353690
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028814-C-CCGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028816_135028819dup , CM000667.2:g.135028816_135028819dup GRCh38
NC_000005.9:g.134364506_134364509dup , CM000667.1:g.134364506_134364509dup GRCh37
NC_000005.8:g.134392405_134392408dup NCBI36
NG_012114.1:g.10457_10460dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.906_909dup MANE Select ENSP00000265340.6:p.Ala304ProfsTer?
ENST00000265340.11:c.906_909dup ENSP00000265340.6:p.Ala304ProfsTer?
ENST00000506438.5:c.906_909dup ENSP00000427542.1:p.Ala304ProfsTer?
NM_002653.4:c.906_909dup NP_002644.4:p.Ala304ProfsTer?
NM_002653.5:c.906_909dup MANE Select NP_002644.4:p.Ala304ProfsTer?
Search 100 bp 5'
Search 100 bp 3'