Canonical Allele Identifier: CA2580071004
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1758788
ClinVar RCV Id: RCV002384929
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746002_41746022dup , CM000666.2:g.41746002_41746022dup GRCh38
NC_000004.11:g.41748019_41748039dup , CM000666.1:g.41748019_41748039dup GRCh37
NC_000004.10:g.41442776_41442796dup NCBI36
NG_008243.1:g.7960_7980dup , LRG_513:g.7960_7980dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741_761dup MANE Select ENSP00000226382.2:p.Ala254_Ala255insAlaAlaAlaAlaAlaAlaAla
ENST00000226382.3:c.741_761dup ENSP00000226382.2:p.Ala254_Ala255insAlaAlaAlaAlaAlaAlaAla
NM_003924.3:c.741_761dup , LRG_513t1:c.741_761dup NP_003915.2:p.Ala254_Ala255insAlaAlaAlaAlaAlaAlaAla
NM_003924.4:c.741_761dup MANE Select NP_003915.2:p.Ala254_Ala255insAlaAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'