Canonical Allele Identifier: CA1584336177

Gene: PITX1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.135028574_135028576delinsGTC , CM000667.2:g.135028574_135028576delinsGTC	GRCh38
NC_000005.9:g.134364264_134364266delinsGTC , CM000667.1:g.134364264_134364266delinsGTC	GRCh37
NC_000005.8:g.134392163_134392165delinsGTC	NCBI36
NG_012114.1:g.10699_10701delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265340.12:c.*203_*205delinsGAC MANE Select	ENSP00000265340.6:n.*203_*205delinsGAC
ENST00000265340.11:c.*203_*205delinsGAC	ENSP00000265340.6:n.*203_*205delinsGAC
ENST00000506438.5:c.*203_*205delinsGAC	ENSP00000427542.1:n.*203_*205delinsGAC
NM_002653.4:c.*203_*205delinsGAC	NP_002644.4:n.*203_*205delinsGAC
NM_002653.5:c.*203_*205delinsGAC MANE Select	NP_002644.4:n.*203_*205delinsGAC