Canonical Allele Identifier: CA1081831393
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v3: 5-135028568-T-TTTTTTTTC
gnomAD v4: 5-135028568-T-TTTTTTTTC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028573_135028574insTTCTTTTT , CM000667.2:g.135028573_135028574insTTCTTTTT GRCh38
NC_000005.9:g.134364263_134364264insTTCTTTTT , CM000667.1:g.134364263_134364264insTTCTTTTT GRCh37
NC_000005.8:g.134392162_134392163insTTCTTTTT NCBI36
NG_012114.1:g.10706_10707insGAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*210_*211insGAAAAAAA MANE Select ENSP00000265340.6:n.*210_*211insGAAAAAAA
ENST00000265340.11:c.*210_*211insGAAAAAAA ENSP00000265340.6:n.*210_*211insGAAAAAAA
ENST00000506438.5:c.*210_*211insGAAAAAAA ENSP00000427542.1:n.*210_*211insGAAAAAAA
NM_002653.4:c.*210_*211insGAAAAAAA NP_002644.4:n.*210_*211insGAAAAAAA
NM_002653.5:c.*210_*211insGAAAAAAA MANE Select NP_002644.4:n.*210_*211insGAAAAAAA
Search 100 bp 5'
Search 100 bp 3'