Canonical Allele Identifier: CA1584336012

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028398_135028411delinsCCGCTGGGCCTCGG , CM000667.2:g.135028398_135028411delinsCCGCTGGGCCTCGG	GRCh38
NC_000005.9:g.134364088_134364101delinsCCGCTGGGCCTCGG , CM000667.1:g.134364088_134364101delinsCCGCTGGGCCTCGG	GRCh37
NC_000005.8:g.134391987_134392000delinsCCGCTGGGCCTCGG	NCBI36
NG_012114.1:g.10864_10877delinsCCGAGGCCCAGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*368_*381delinsCCGAGGCCCAGCGG MANE Select	ENSP00000265340.6:n.*368_*381delinsCCGAGGCCCAGCGG
ENST00000265340.11:c.*368_*381delinsCCGAGGCCCAGCGG	ENSP00000265340.6:n.*368_*381delinsCCGAGGCCCAGCGG
NM_002653.4:c.*368_*381delinsCCGAGGCCCAGCGG	NP_002644.4:n.*368_*381delinsCCGAGGCCCAGCGG
NM_002653.5:c.*368_*381delinsCCGAGGCCCAGCGG MANE Select	NP_002644.4:n.*368_*381delinsCCGAGGCCCAGCGG