Canonical Allele Identifier: CA95828446
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 857993
ClinVar RCV Id: RCV001063779
dbSNP Id: rs955563168
gnomAD v3: 4-41745990-T-TGCC
gnomAD v4: 4-41745990-T-TGCC
MyVariant Identifiers: chr4:g.41745990_41745991insGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746002_41746004dup , CM000666.2:g.41746002_41746004dup GRCh38
NC_000004.11:g.41748019_41748021dup , CM000666.1:g.41748019_41748021dup GRCh37
NC_000004.10:g.41442776_41442778dup NCBI36
NG_008243.1:g.7978_7980dup , LRG_513:g.7978_7980dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.759_761dup MANE Select ENSP00000226382.2:p.Ala254_Ala255insAla
ENST00000226382.3:c.759_761dup ENSP00000226382.2:p.Ala254_Ala255insAla
NM_003924.3:c.759_761dup , LRG_513t1:c.759_761dup NP_003915.2:p.Ala254_Ala255insAla
NM_003924.4:c.759_761dup MANE Select NP_003915.2:p.Ala254_Ala255insAla
Search 100 bp 5'
Search 100 bp 3'