Canonical Allele Identifier: CA2675353476
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028595-G-GGGTCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028598_135028602dup , CM000667.2:g.135028598_135028602dup GRCh38
NC_000005.9:g.134364288_134364292dup , CM000667.1:g.134364288_134364292dup GRCh37
NC_000005.8:g.134392187_134392191dup NCBI36
NG_012114.1:g.10675_10679dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*179_*183dup MANE Select ENSP00000265340.6:n.*179_*183dup
ENST00000265340.11:c.*179_*183dup ENSP00000265340.6:n.*179_*183dup
ENST00000506438.5:c.*179_*183dup ENSP00000427542.1:n.*179_*183dup
NM_002653.4:c.*179_*183dup NP_002644.4:n.*179_*183dup
NM_002653.5:c.*179_*183dup MANE Select NP_002644.4:n.*179_*183dup
Search 100 bp 5'
Search 100 bp 3'