Canonical Allele Identifier: CA2901434
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 467742
ClinVar RCV Id: RCV000840185 RCV001083365 RCV002257810 RCV003942808
dbSNP Id: rs779557320
ExAC: 4:41748001 TGCCGCTGCCGCCGCC / T
gnomAD v2: 4-41748001-TGCCGCTGCCGCCGCC-T
gnomAD v3: 4-41745984-TGCCGCTGCCGCCGCC-T
gnomAD v4: 4-41745984-TGCCGCTGCCGCCGCC-T
MyVariant Identifiers: chr4:g.41748002_41748016del (hg19) chr4:g.41748013_41748034delinsGGCCGCC (hg19) chr4:g.41745985_41745999del (hg38) chr4:g.41745996_41746017delinsGGCCGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745996_41746010del , CM000666.2:g.41745996_41746010del GRCh38
NC_000004.11:g.41748013_41748027del , CM000666.1:g.41748013_41748027del GRCh37
NC_000004.10:g.41442770_41442784del NCBI36
NG_008243.1:g.7972_7986del , LRG_513:g.7972_7986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.753_767del MANE Select ENSP00000226382.2:p.Ala252_Ala256del
ENST00000226382.3:c.753_767del ENSP00000226382.2:p.Ala252_Ala256del
NM_003924.3:c.753_767del , LRG_513t1:c.753_767del NP_003915.2:p.Ala252_Ala256del
NM_003924.4:c.753_767del MANE Select NP_003915.2:p.Ala252_Ala256del
Search 100 bp 5'
Search 100 bp 3'