Canonical Allele Identifier: CA1584336179
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028575_135028576delinsTC , CM000667.2:g.135028575_135028576delinsTC GRCh38
NC_000005.9:g.134364265_134364266delinsTC , CM000667.1:g.134364265_134364266delinsTC GRCh37
NC_000005.8:g.134392164_134392165delinsTC NCBI36
NG_012114.1:g.10699_10700delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*203_*204delinsGA MANE Select ENSP00000265340.6:n.*203_*204delinsGA
ENST00000265340.11:c.*203_*204delinsGA ENSP00000265340.6:n.*203_*204delinsGA
ENST00000506438.5:c.*203_*204delinsGA ENSP00000427542.1:n.*203_*204delinsGA
NM_002653.4:c.*203_*204delinsGA NP_002644.4:n.*203_*204delinsGA
NM_002653.5:c.*203_*204delinsGA MANE Select NP_002644.4:n.*203_*204delinsGA