Canonical Allele Identifier: CA128008952
Gene: PITX1 HGNC NCBI

Linked Data

dbSNP Id: rs368142460
gnomAD v3: 5-135028547-TGC-T
gnomAD v4: 5-135028547-TGC-T
MyVariant Identifiers: chr5:g.134364238_134364239del (hg19) chr5:g.135028548_135028549del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.135028548_135028549del , CM000667.2:g.135028548_135028549del GRCh38
NC_000005.9:g.134364238_134364239del , CM000667.1:g.134364238_134364239del GRCh37
NC_000005.8:g.134392137_134392138del NCBI36
NG_012114.1:g.10726_10727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265340.12:c.*230_*231del MANE Select ENSP00000265340.6:n.*230_*231del
ENST00000265340.11:c.*230_*231del ENSP00000265340.6:n.*230_*231del
NM_002653.4:c.*230_*231del NP_002644.4:n.*230_*231del
NM_002653.5:c.*230_*231del MANE Select NP_002644.4:n.*230_*231del
Search 100 bp 5'
Search 100 bp 3'