Canonical Allele Identifier: CA2675353196

Gene: PITX1

Linked Data

• gnomAD v4: 5-135028334-GCCCGGCCACTCAGTCCGGATCCAGCGCGGCGGGGACGCGGGATACGAGGTCGTCCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028342_135028399del , CM000667.2:g.135028342_135028399del	GRCh38
NC_000005.9:g.134364032_134364089del , CM000667.1:g.134364032_134364089del	GRCh37
NC_000005.8:g.134391931_134391988del	NCBI36
NG_012114.1:g.10883_10940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*387_*444del MANE Select	ENSP00000265340.6:n.*387_*444del
ENST00000265340.11:c.*387_*444del	ENSP00000265340.6:n.*387_*444del
NM_002653.4:c.*387_*444del	NP_002644.4:n.*387_*444del
NM_002653.5:c.*387_*444del MANE Select	NP_002644.4:n.*387_*444del