Canonical Allele Identifier: CA1081831446
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v3: 5-135028581-TGGAGGGCAGAG-T
gnomAD v4: 5-135028581-TGGAGGGCAGAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028582_135028592del , CM000667.2:g.135028582_135028592del GRCh38
NC_000005.9:g.134364272_134364282del , CM000667.1:g.134364272_134364282del GRCh37
NC_000005.8:g.134392171_134392181del NCBI36
NG_012114.1:g.10683_10693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*187_*197del MANE Select ENSP00000265340.6:n.*187_*197del
ENST00000265340.11:c.*187_*197del ENSP00000265340.6:n.*187_*197del
ENST00000506438.5:c.*187_*197del ENSP00000427542.1:n.*187_*197del
NM_002653.4:c.*187_*197del NP_002644.4:n.*187_*197del
NM_002653.5:c.*187_*197del MANE Select NP_002644.4:n.*187_*197del
Search 100 bp 5'
Search 100 bp 3'