Canonical Allele Identifier: CA917175457
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1758454
ClinVar RCV Id: RCV002380250
dbSNP Id: rs1553897780
gnomAD v3: 4-41746005-T-TGCCGCGGCCGCC
gnomAD v4: 4-41746005-T-TGCCGCGGCCGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746011_41746022dup , CM000666.2:g.41746011_41746022dup GRCh38
NC_000004.11:g.41748028_41748039dup , CM000666.1:g.41748028_41748039dup GRCh37
NC_000004.10:g.41442785_41442796dup NCBI36
NG_008243.1:g.7954_7965dup , LRG_513:g.7954_7965dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.735_746dup MANE Select ENSP00000226382.2:p.Ala249_Ala250insAlaAlaAlaAla
ENST00000226382.3:c.735_746dup ENSP00000226382.2:p.Ala249_Ala250insAlaAlaAlaAla
NM_003924.3:c.735_746dup , LRG_513t1:c.735_746dup NP_003915.2:p.Ala249_Ala250insAlaAlaAlaAla
NM_003924.4:c.735_746dup MANE Select NP_003915.2:p.Ala249_Ala250insAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'