Canonical Allele Identifier: CA1584336173
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028573_135028576delinsTGTC , CM000667.2:g.135028573_135028576delinsTGTC GRCh38
NC_000005.9:g.134364263_134364266delinsTGTC , CM000667.1:g.134364263_134364266delinsTGTC GRCh37
NC_000005.8:g.134392162_134392165delinsTGTC NCBI36
NG_012114.1:g.10699_10702delinsGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*203_*206delinsGACA MANE Select ENSP00000265340.6:n.*203_*206delinsGACA
ENST00000265340.11:c.*203_*206delinsGACA ENSP00000265340.6:n.*203_*206delinsGACA
ENST00000506438.5:c.*203_*206delinsGACA ENSP00000427542.1:n.*203_*206delinsGACA
NM_002653.4:c.*203_*206delinsGACA NP_002644.4:n.*203_*206delinsGACA
NM_002653.5:c.*203_*206delinsGACA MANE Select NP_002644.4:n.*203_*206delinsGACA