Canonical Allele Identifier: CA1584336184

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028582_135028593delinsGGAGGGCAGAGT , CM000667.2:g.135028582_135028593delinsGGAGGGCAGAGT	GRCh38
NC_000005.9:g.134364272_134364283delinsGGAGGGCAGAGT , CM000667.1:g.134364272_134364283delinsGGAGGGCAGAGT	GRCh37
NC_000005.8:g.134392171_134392182delinsGGAGGGCAGAGT	NCBI36
NG_012114.1:g.10682_10693delinsACTCTGCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*186_*197delinsACTCTGCCCTCC MANE Select	ENSP00000265340.6:n.*186_*197delinsACTCTGCCCTCC
ENST00000265340.11:c.*186_*197delinsACTCTGCCCTCC	ENSP00000265340.6:n.*186_*197delinsACTCTGCCCTCC
ENST00000506438.5:c.*186_*197delinsACTCTGCCCTCC	ENSP00000427542.1:n.*186_*197delinsACTCTGCCCTCC
NM_002653.4:c.*186_*197delinsACTCTGCCCTCC	NP_002644.4:n.*186_*197delinsACTCTGCCCTCC
NM_002653.5:c.*186_*197delinsACTCTGCCCTCC MANE Select	NP_002644.4:n.*186_*197delinsACTCTGCCCTCC