Canonical Allele Identifier: CA2675353351
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028466_135028467insT , CM000667.2:g.135028466_135028467insT GRCh38
NC_000005.9:g.134364156_134364157insT , CM000667.1:g.134364156_134364157insT GRCh37
NC_000005.8:g.134392055_134392056insT NCBI36
NG_012114.1:g.10808_10809insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*312_*313insA MANE Select ENSP00000265340.6:n.*312_*313insA
ENST00000265340.11:c.*312_*313insA ENSP00000265340.6:n.*312_*313insA
NM_002653.4:c.*312_*313insA NP_002644.4:n.*312_*313insA
NM_002653.5:c.*312_*313insA MANE Select NP_002644.4:n.*312_*313insA