Canonical Allele Identifier: CA2526361980

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135029028del , CM000667.2:g.135029028del	GRCh38
NC_000005.9:g.134364718del , CM000667.1:g.134364718del	GRCh37
NC_000005.8:g.134392617del	NCBI36
NG_012114.1:g.10247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.696del MANE Select	ENSP00000265340.6:p.Ala233ProfsTer?
ENST00000265340.11:c.696del	ENSP00000265340.6:p.Ala233ProfsTer?
ENST00000506438.5:c.696del	ENSP00000427542.1:p.Ala233ProfsTer?
NM_002653.4:c.696del	NP_002644.4:p.Ala233ProfsTer?
NM_002653.5:c.696del MANE Select	NP_002644.4:p.Ala233ProfsTer?