Canonical Allele Identifier: CA2604555994
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v3: 5-135028801-TTGAGGCCCGAGGCCGGGCCC-T
gnomAD v4: 5-135028801-TTGAGGCCCGAGGCCGGGCCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028804_135028823del , CM000667.2:g.135028804_135028823del GRCh38
NC_000005.9:g.134364494_134364513del , CM000667.1:g.134364494_134364513del GRCh37
NC_000005.8:g.134392393_134392412del NCBI36
NG_012114.1:g.10454_10473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.903_922del MANE Select ENSP00000265340.6:p.Gly302ArgfsTer?
ENST00000265340.11:c.903_922del ENSP00000265340.6:p.Gly302ArgfsTer?
ENST00000506438.5:c.903_922del ENSP00000427542.1:p.Gly302ArgfsTer?
NM_002653.4:c.903_922del NP_002644.4:p.Gly302ArgfsTer?
NM_002653.5:c.903_922del MANE Select NP_002644.4:p.Gly302ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'