Canonical Allele Identifier: CA915943035
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 802070
ClinVar RCV Id: RCV000987442 RCV002382222
dbSNP Id: rs775006915
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746005_41746019dup , CM000666.2:g.41746005_41746019dup GRCh38
NC_000004.11:g.41748022_41748036dup , CM000666.1:g.41748022_41748036dup GRCh37
NC_000004.10:g.41442779_41442793dup NCBI36
NG_008243.1:g.7960_7974dup , LRG_513:g.7960_7974dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741_755dup MANE Select ENSP00000226382.2:p.Ala252_Ala253insAlaAlaAlaAlaAla
ENST00000226382.3:c.741_755dup ENSP00000226382.2:p.Ala252_Ala253insAlaAlaAlaAlaAla
NM_003924.3:c.741_755dup , LRG_513t1:c.741_755dup NP_003915.2:p.Ala252_Ala253insAlaAlaAlaAlaAla
NM_003924.4:c.741_755dup MANE Select NP_003915.2:p.Ala252_Ala253insAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'