Canonical Allele Identifier: CA645369340
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 429242
ClinVar RCV Id: RCV000494462 RCV001089949 RCV003431046 RCV002395193
dbSNP Id: rs761018157
gnomAD v4: 4-41745972-A-AGCTGCCGCCGCTGCC
MyVariant Identifiers: chr4:g.41747990_41748004dup (hg19) chr4:g.41747989_41747990insGCTGCCGCCGCTGCC (hg19) chr4:g.41745973_41745987dup (hg38) chr4:g.41745972_41745973insGCTGCCGCCGCTGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745984_41745998dup , CM000666.2:g.41745984_41745998dup GRCh38
NC_000004.11:g.41748001_41748015dup , CM000666.1:g.41748001_41748015dup GRCh37
NC_000004.10:g.41442758_41442772dup NCBI36
NG_008243.1:g.7984_7998dup , LRG_513:g.7984_7998dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.765_779dup MANE Select ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
ENST00000226382.3:c.765_779dup ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
NM_003924.3:c.765_779dup , LRG_513t1:c.765_779dup NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
NM_003924.4:c.765_779dup MANE Select NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'