Canonical Allele Identifier: CA1584336331

Gene: PITX1

Linked Data

• dbSNP Id: rs1752396249

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028763_135028769del , CM000667.2:g.135028763_135028769del	GRCh38
NC_000005.9:g.134364453_134364459del , CM000667.1:g.134364453_134364459del	GRCh37
NC_000005.8:g.134392352_134392358del	NCBI36
NG_012114.1:g.10509_10515del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*13_*19del MANE Select	ENSP00000265340.6:n.*13_*19del
ENST00000265340.11:c.*13_*19del	ENSP00000265340.6:n.*13_*19del
ENST00000506438.5:c.*13_*19del	ENSP00000427542.1:n.*13_*19del
NM_002653.4:c.*13_*19del	NP_002644.4:n.*13_*19del
NM_002653.5:c.*13_*19del MANE Select	NP_002644.4:n.*13_*19del