Canonical Allele Identifier: CA2675353450
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028575-T-TTTA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028575_135028576insTTA , CM000667.2:g.135028575_135028576insTTA GRCh38
NC_000005.9:g.134364265_134364266insTTA , CM000667.1:g.134364265_134364266insTTA GRCh37
NC_000005.8:g.134392164_134392165insTTA NCBI36
NG_012114.1:g.10699_10700insTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*203_*204insTAA MANE Select ENSP00000265340.6:n.*203_*204insTAA
ENST00000265340.11:c.*203_*204insTAA ENSP00000265340.6:n.*203_*204insTAA
ENST00000506438.5:c.*203_*204insTAA ENSP00000427542.1:n.*203_*204insTAA
NM_002653.4:c.*203_*204insTAA NP_002644.4:n.*203_*204insTAA
NM_002653.5:c.*203_*204insTAA MANE Select NP_002644.4:n.*203_*204insTAA
Search 100 bp 5'
Search 100 bp 3'