Canonical Allele Identifier: CA1584336231

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028670_135028685delinsCGGCGCGGTGAGCTGG , CM000667.2:g.135028670_135028685delinsCGGCGCGGTGAGCTGG	GRCh38
NC_000005.9:g.134364360_134364375delinsCGGCGCGGTGAGCTGG , CM000667.1:g.134364360_134364375delinsCGGCGCGGTGAGCTGG	GRCh37
NC_000005.8:g.134392259_134392274delinsCGGCGCGGTGAGCTGG	NCBI36
NG_012114.1:g.10590_10605delinsCCAGCTCACCGCGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*94_*109delinsCCAGCTCACCGCGCCG MANE Select	ENSP00000265340.6:n.*94_*109delinsCCAGCTCACCGCGCCG
ENST00000265340.11:c.*94_*109delinsCCAGCTCACCGCGCCG	ENSP00000265340.6:n.*94_*109delinsCCAGCTCACCGCGCCG
ENST00000506438.5:c.*94_*109delinsCCAGCTCACCGCGCCG	ENSP00000427542.1:n.*94_*109delinsCCAGCTCACCGCGCCG
NM_002653.4:c.*94_*109delinsCCAGCTCACCGCGCCG	NP_002644.4:n.*94_*109delinsCCAGCTCACCGCGCCG
NM_002653.5:c.*94_*109delinsCCAGCTCACCGCGCCG MANE Select	NP_002644.4:n.*94_*109delinsCCAGCTCACCGCGCCG