Canonical Allele Identifier: CA2670427177
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746266_41746271dup , CM000666.2:g.41746266_41746271dup GRCh38
NC_000004.11:g.41748283_41748288dup , CM000666.1:g.41748283_41748288dup GRCh37
NC_000004.10:g.41443040_41443045dup NCBI36
NG_008243.1:g.7705_7710dup , LRG_513:g.7705_7710dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.486_491dup MANE Select ENSP00000226382.2:p.Ala164_Ala165insAlaAla
ENST00000226382.3:c.486_491dup ENSP00000226382.2:p.Ala164_Ala165insAlaAla
ENST00000510424.2:n.307_312dup
NM_003924.3:c.486_491dup , LRG_513t1:c.486_491dup NP_003915.2:p.Ala164_Ala165insAlaAla
NM_003924.4:c.486_491dup MANE Select NP_003915.2:p.Ala164_Ala165insAlaAla