Canonical Allele Identifier: CA562836044
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs1255178004
gnomAD v2: 5-134364155-G-GGA
gnomAD v3: 5-135028465-G-GGA
gnomAD v4: 5-135028465-G-GGA
MyVariant Identifiers: chr5:g.134364155_134364156insGA (hg19) chr5:g.135028465_135028466insGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028466_135028467dup , CM000667.2:g.135028466_135028467dup GRCh38
NC_000005.9:g.134364156_134364157dup , CM000667.1:g.134364156_134364157dup GRCh37
NC_000005.8:g.134392055_134392056dup NCBI36
NG_012114.1:g.10808_10809dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*312_*313dup MANE Select ENSP00000265340.6:n.*312_*313dup
ENST00000265340.11:c.*312_*313dup ENSP00000265340.6:n.*312_*313dup
NM_002653.4:c.*312_*313dup NP_002644.4:n.*312_*313dup
NM_002653.5:c.*312_*313dup MANE Select NP_002644.4:n.*312_*313dup
Search 100 bp 5'
Search 100 bp 3'