Canonical Allele Identifier: CA2573137670
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1423672
ClinVar RCV Id: RCV001929006
dbSNP Id: rs2153112761
gnomAD v4: 4-41745984-T-TGCCGCTGACGCCGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745991_41745992insACGCCGCCGCCGCTG , CM000666.2:g.41745991_41745992insACGCCGCCGCCGCTG GRCh38
NC_000004.11:g.41748008_41748009insACGCCGCCGCCGCTG , CM000666.1:g.41748008_41748009insACGCCGCCGCCGCTG GRCh37
NC_000004.10:g.41442765_41442766insACGCCGCCGCCGCTG NCBI36
NG_008243.1:g.7986_7987insGGCGGCGTCAGCGGC , LRG_513:g.7986_7987insGGCGGCGTCAGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.767_768insGGCGGCGTCAGCGGC MANE Select ENSP00000226382.2:p.Ala256_Ala257insAlaAlaSerAlaAla
ENST00000226382.3:c.767_768insGGCGGCGTCAGCGGC ENSP00000226382.2:p.Ala256_Ala257insAlaAlaSerAlaAla
NM_003924.3:c.767_768insGGCGGCGTCAGCGGC , LRG_513t1:c.767_768insGGCGGCGTCAGCGGC NP_003915.2:p.Ala256_Ala257insAlaAlaSerAlaAla
NM_003924.4:c.767_768insGGCGGCGTCAGCGGC MANE Select NP_003915.2:p.Ala256_Ala257insAlaAlaSerAlaAla
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