Canonical Allele Identifier: CA2580071003
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1757963
ClinVar RCV Id: RCV002382538
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745993_41746031dup , CM000666.2:g.41745993_41746031dup GRCh38
NC_000004.11:g.41748010_41748048dup , CM000666.1:g.41748010_41748048dup GRCh37
NC_000004.10:g.41442767_41442805dup NCBI36
NG_008243.1:g.7945_7983dup , LRG_513:g.7945_7983dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.726_764dup MANE Select ENSP00000226382.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000226382.3:c.726_764dup ENSP00000226382.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.3:c.726_764dup , LRG_513t1:c.726_764dup NP_003915.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.4:c.726_764dup MANE Select NP_003915.2:p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
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