Canonical Allele Identifier: CA1584341466

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135031139_135031140delinsTC , CM000667.2:g.135031139_135031140delinsTC	GRCh38
NC_000005.9:g.134366829_134366830delinsTC , CM000667.1:g.134366829_134366830delinsTC	GRCh37
NC_000005.8:g.134394728_134394729delinsTC	NCBI36
NG_012114.1:g.8135_8136delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.402+136_402+137delinsGA MANE Select	ENSP00000265340.6:n.402+136_402+137delinsGA
ENST00000265340.11:c.402+136_402+137delinsGA	ENSP00000265340.6:n.402+136_402+137delinsGA
ENST00000503586.1:c.524+136_524+137delinsGA
ENST00000504936.1:n.735+136_735+137delinsGA
ENST00000506438.5:c.402+136_402+137delinsGA	ENSP00000427542.1:n.402+136_402+137delinsGA
NM_002653.4:c.402+136_402+137delinsGA	NP_002644.4:n.402+136_402+137delinsGA
NM_002653.5:c.402+136_402+137delinsGA MANE Select	NP_002644.4:n.402+136_402+137delinsGA