Canonical Allele Identifier: CA1081831473

Gene: PITX1

Linked Data

• gnomAD v3: 5-135028582-GGAGGGCAGA-G
• gnomAD v4: 5-135028582-GGAGGGCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028584_135028592del , CM000667.2:g.135028584_135028592del	GRCh38
NC_000005.9:g.134364274_134364282del , CM000667.1:g.134364274_134364282del	GRCh37
NC_000005.8:g.134392173_134392181del	NCBI36
NG_012114.1:g.10684_10692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*188_*196del MANE Select	ENSP00000265340.6:n.*188_*196del
ENST00000265340.11:c.*188_*196del	ENSP00000265340.6:n.*188_*196del
ENST00000506438.5:c.*188_*196del	ENSP00000427542.1:n.*188_*196del
NM_002653.4:c.*188_*196del	NP_002644.4:n.*188_*196del
NM_002653.5:c.*188_*196del MANE Select	NP_002644.4:n.*188_*196del