Canonical Allele Identifier: CA1584336277

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028714_135028743delinsCCTCCGCGCCCGCGCCCGCGCCCTTCCCCG , CM000667.2:g.135028714_135028743delinsCCTCCGCGCCCGCGCCCGCGCCCTTCCCCG	GRCh38
NC_000005.9:g.134364404_134364433delinsCCTCCGCGCCCGCGCCCGCGCCCTTCCCCG , CM000667.1:g.134364404_134364433delinsCCTCCGCGCCCGCGCCCGCGCCCTTCCCCG	GRCh37
NC_000005.8:g.134392303_134392332delinsCCTCCGCGCCCGCGCCCGCGCCCTTCCCCG	NCBI36
NG_012114.1:g.10532_10561delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG MANE Select	ENSP00000265340.6:n.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGA...
ENST00000265340.11:c.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG	ENSP00000265340.6:n.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGA...
ENST00000506438.5:c.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG	ENSP00000427542.1:n.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGA...
NM_002653.4:c.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG	NP_002644.4:n.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG
NM_002653.5:c.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG MANE Select	NP_002644.4:n.*36_*65delinsCGGGGAAGGGCGCGGGCGCGGGCGCGGAGG