Canonical Allele Identifier: CA2675353449
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v4: 5-135028575-T-TTA
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028575_135028576insTA , CM000667.2:g.135028575_135028576insTA GRCh38
NC_000005.9:g.134364265_134364266insTA , CM000667.1:g.134364265_134364266insTA GRCh37
NC_000005.8:g.134392164_134392165insTA NCBI36
NG_012114.1:g.10699_10700insTA

Transcript Alleles

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