Canonical Allele Identifier: CA2675353443
Gene: PITX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028575del , CM000667.2:g.135028575del GRCh38
NC_000005.9:g.134364265del , CM000667.1:g.134364265del GRCh37
NC_000005.8:g.134392164del NCBI36
NG_012114.1:g.10700del

Transcript Alleles

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