Canonical Allele Identifier: CA1584336046

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028441_135028456delinsCGGAGTGGGCCTCCGG , CM000667.2:g.135028441_135028456delinsCGGAGTGGGCCTCCGG	GRCh38
NC_000005.9:g.134364131_134364146delinsCGGAGTGGGCCTCCGG , CM000667.1:g.134364131_134364146delinsCGGAGTGGGCCTCCGG	GRCh37
NC_000005.8:g.134392030_134392045delinsCGGAGTGGGCCTCCGG	NCBI36
NG_012114.1:g.10819_10834delinsCCGGAGGCCCACTCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*323_*338delinsCCGGAGGCCCACTCCG MANE Select	ENSP00000265340.6:n.*323_*338delinsCCGGAGGCCCACTCCG
ENST00000265340.11:c.*323_*338delinsCCGGAGGCCCACTCCG	ENSP00000265340.6:n.*323_*338delinsCCGGAGGCCCACTCCG
NM_002653.4:c.*323_*338delinsCCGGAGGCCCACTCCG	NP_002644.4:n.*323_*338delinsCCGGAGGCCCACTCCG
NM_002653.5:c.*323_*338delinsCCGGAGGCCCACTCCG MANE Select	NP_002644.4:n.*323_*338delinsCCGGAGGCCCACTCCG