Canonical Allele Identifier: CA595636987

Gene: PITX3 GBF1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102230778_102230794del , CM000672.2:g.102230778_102230794del	GRCh38
NC_000010.10:g.103990535_103990551del , CM000672.1:g.103990535_103990551del	GRCh37
NC_000010.9:g.103980525_103980541del	NCBI36
NG_008147.1:g.15692_15708del

Transcript Alleles

HGVS	Amino-acid Change
NM_005029.4:c.640_656del (PITX3) MANE Select	NP_005020.1:p.Ala214ArgfsTer?
ENST00000370002.8:c.640_656del (PITX3) MANE Select	ENSP00000359019.3:p.Ala214ArgfsTer?
NM_001391923.1:c.-149_-133del (GBF1)	NP_001378852.1:n.-149_-133del
NM_001391924.1:c.-287_-271del (GBF1)	NP_001378853.1:n.-287_-271del
NM_005029.3:c.640_656del (PITX3)	NP_005020.1:p.Ala214ArgfsTer?
ENST00000370002.7:c.640_656del (PITX3)	ENSP00000359019.3:p.Ala214ArgfsTer?
ENST00000539804.1:c.640_656del (PITX3)	ENSP00000439383.1:p.Ala214ArgfsTer?
XM_011539865.1:c.658_674del (PITX3)	XP_011538167.1:p.Ala220ArgfsTer?