Canonical Allele Identifier: CA2901423
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467744
ClinVar RCV Id: RCV000538069
dbSNP Id: rs764220516
ExAC: 4:41747989 AGCTGCCGCC / A
gnomAD v2: 4-41747989-AGCTGCCGCC-A
gnomAD v4: 4-41745972-AGCTGCCGCC-A
MyVariant Identifiers: chr4:g.41747996_41748004del (hg19) chr4:g.41747990_41747998del (hg19) chr4:g.41747998_41748019delinsTGCCGCCGCCGCC (hg19) chr4:g.41745973_41745981del (hg38) chr4:g.41745981_41746002delinsTGCCGCCGCCGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745981_41745989del , CM000666.2:g.41745981_41745989del GRCh38
NC_000004.11:g.41747998_41748006del , CM000666.1:g.41747998_41748006del GRCh37
NC_000004.10:g.41442755_41442763del NCBI36
NG_008243.1:g.7990_7998del , LRG_513:g.7990_7998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.771_779del MANE Select ENSP00000226382.2:p.Ala258_Ala260del
ENST00000226382.3:c.771_779del ENSP00000226382.2:p.Ala258_Ala260del
NM_003924.3:c.771_779del , LRG_513t1:c.771_779del NP_003915.2:p.Ala258_Ala260del
NM_003924.4:c.771_779del MANE Select NP_003915.2:p.Ala258_Ala260del
Search 100 bp 5'
Search 100 bp 3'