Canonical Allele Identifier: CA2675353445

Gene: PITX1

Linked Data

• gnomAD v4: 5-135028574-GTCTTTTTGGAGGGCAGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028575_135028593del , CM000667.2:g.135028575_135028593del	GRCh38
NC_000005.9:g.134364265_134364283del , CM000667.1:g.134364265_134364283del	GRCh37
NC_000005.8:g.134392164_134392182del	NCBI36
NG_012114.1:g.10682_10700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*186_*204del MANE Select	ENSP00000265340.6:n.*186_*204del
ENST00000265340.11:c.*186_*204del	ENSP00000265340.6:n.*186_*204del
ENST00000506438.5:c.*186_*204del	ENSP00000427542.1:n.*186_*204del
NM_002653.4:c.*186_*204del	NP_002644.4:n.*186_*204del
NM_002653.5:c.*186_*204del MANE Select	NP_002644.4:n.*186_*204del