Canonical Allele Identifier: CA551141164
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 573076
ClinVar RCV Id: RCV000694647
dbSNP Id: rs1157597283
gnomAD v2: 4-41747995-C-CGCCGCT
gnomAD v3: 4-41745978-C-CGCCGCT
gnomAD v4: 4-41745978-C-CGCCGCT
MyVariant Identifiers: chr4:g.41747996_41748001dup (hg19) chr4:g.41747995_41747996insGCCGCT (hg19) chr4:g.41745979_41745984dup (hg38) chr4:g.41745978_41745979insGCCGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745990_41745995dup , CM000666.2:g.41745990_41745995dup GRCh38
NC_000004.11:g.41748007_41748012dup , CM000666.1:g.41748007_41748012dup GRCh37
NC_000004.10:g.41442764_41442769dup NCBI36
NG_008243.1:g.7987_7992dup , LRG_513:g.7987_7992dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.768_773dup MANE Select ENSP00000226382.2:p.Ala258_Ala259insAlaAla
ENST00000226382.3:c.768_773dup ENSP00000226382.2:p.Ala258_Ala259insAlaAla
NM_003924.3:c.768_773dup , LRG_513t1:c.768_773dup NP_003915.2:p.Ala258_Ala259insAlaAla
NM_003924.4:c.768_773dup MANE Select NP_003915.2:p.Ala258_Ala259insAlaAla
Search 100 bp 5'
Search 100 bp 3'