Canonical Allele Identifier: CA1584336105
Gene: PITX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028514_135028515delinsAT , CM000667.2:g.135028514_135028515delinsAT GRCh38
NC_000005.9:g.134364204_134364205delinsAT , CM000667.1:g.134364204_134364205delinsAT GRCh37
NC_000005.8:g.134392103_134392104delinsAT NCBI36
NG_012114.1:g.10760_10761delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*264_*265delinsAT MANE Select ENSP00000265340.6:n.*264_*265delinsAT
ENST00000265340.11:c.*264_*265delinsAT ENSP00000265340.6:n.*264_*265delinsAT
NM_002653.4:c.*264_*265delinsAT NP_002644.4:n.*264_*265delinsAT
NM_002653.5:c.*264_*265delinsAT MANE Select NP_002644.4:n.*264_*265delinsAT