Canonical Allele Identifier: CA2670427162
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746020-C-CGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746029_41746031dup , CM000666.2:g.41746029_41746031dup GRCh38
NC_000004.11:g.41748046_41748048dup , CM000666.1:g.41748046_41748048dup GRCh37
NC_000004.10:g.41442803_41442805dup NCBI36
NG_008243.1:g.7948_7950dup , LRG_513:g.7948_7950dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.729_731dup MANE Select ENSP00000226382.2:p.Ala244_Ala245insAla
ENST00000226382.3:c.729_731dup ENSP00000226382.2:p.Ala244_Ala245insAla
NM_003924.3:c.729_731dup , LRG_513t1:c.729_731dup NP_003915.2:p.Ala244_Ala245insAla
NM_003924.4:c.729_731dup MANE Select NP_003915.2:p.Ala244_Ala245insAla
Search 100 bp 5'
Search 100 bp 3'