Canonical Allele Identifier: CA2670427152
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745997-G-GCCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745999_41746000insACC , CM000666.2:g.41745999_41746000insACC GRCh38
NC_000004.11:g.41748016_41748017insACC , CM000666.1:g.41748016_41748017insACC GRCh37
NC_000004.10:g.41442773_41442774insACC NCBI36
NG_008243.1:g.7973_7974insTGG , LRG_513:g.7973_7974insTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.754_755insTGG MANE Select ENSP00000226382.2:p.Ala251_Ala252insVal
ENST00000226382.3:c.754_755insTGG ENSP00000226382.2:p.Ala251_Ala252insVal
NM_003924.3:c.754_755insTGG , LRG_513t1:c.754_755insTGG NP_003915.2:p.Ala251_Ala252insVal
NM_003924.4:c.754_755insTGG MANE Select NP_003915.2:p.Ala251_Ala252insVal
Search 100 bp 5'
Search 100 bp 3'