Canonical Allele Identifier: CA1584336176
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028573_135028574delinsTG , CM000667.2:g.135028573_135028574delinsTG GRCh38
NC_000005.9:g.134364263_134364264delinsTG , CM000667.1:g.134364263_134364264delinsTG GRCh37
NC_000005.8:g.134392162_134392163delinsTG NCBI36
NG_012114.1:g.10701_10702delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*205_*206delinsCA MANE Select ENSP00000265340.6:n.*205_*206delinsCA
ENST00000265340.11:c.*205_*206delinsCA ENSP00000265340.6:n.*205_*206delinsCA
ENST00000506438.5:c.*205_*206delinsCA ENSP00000427542.1:n.*205_*206delinsCA
NM_002653.4:c.*205_*206delinsCA NP_002644.4:n.*205_*206delinsCA
NM_002653.5:c.*205_*206delinsCA MANE Select NP_002644.4:n.*205_*206delinsCA