Canonical Allele Identifier: CA1081831432
Gene: PITX1 HGNC NCBI

Linked Data

gnomAD v3: 5-135028574-G-GT
gnomAD v4: 5-135028574-G-GT
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*204dup MANE Select ENSP00000265340.6:n.*204dup
ENST00000265340.11:c.*204dup ENSP00000265340.6:n.*204dup
ENST00000506438.5:c.*204dup ENSP00000427542.1:n.*204dup
NM_002653.4:c.*204dup NP_002644.4:n.*204dup
NM_002653.5:c.*204dup MANE Select NP_002644.4:n.*204dup
Search 100 bp 5'
Search 100 bp 3'