Canonical Allele Identifier: CA2580071009
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1757594
ClinVar RCV Id: RCV002370788
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746014_41746034dup , CM000666.2:g.41746014_41746034dup GRCh38
NC_000004.11:g.41748031_41748051dup , CM000666.1:g.41748031_41748051dup GRCh37
NC_000004.10:g.41442788_41442808dup NCBI36
NG_008243.1:g.7938_7958dup , LRG_513:g.7938_7958dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.719_739dup MANE Select ENSP00000226382.2:p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla
ENST00000226382.3:c.719_739dup ENSP00000226382.2:p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla
NM_003924.3:c.719_739dup , LRG_513t1:c.719_739dup NP_003915.2:p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla
NM_003924.4:c.719_739dup MANE Select NP_003915.2:p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'