Canonical Allele Identifier: CA2670427147
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745990-TGCCGCCGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745996_41746004del , CM000666.2:g.41745996_41746004del GRCh38
NC_000004.11:g.41748013_41748021del , CM000666.1:g.41748013_41748021del GRCh37
NC_000004.10:g.41442770_41442778del NCBI36
NG_008243.1:g.7972_7980del , LRG_513:g.7972_7980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.753_761del MANE Select ENSP00000226382.2:p.Ala252_Ala254del
ENST00000226382.3:c.753_761del ENSP00000226382.2:p.Ala252_Ala254del
NM_003924.3:c.753_761del , LRG_513t1:c.753_761del NP_003915.2:p.Ala252_Ala254del
NM_003924.4:c.753_761del MANE Select NP_003915.2:p.Ala252_Ala254del
Search 100 bp 5'
Search 100 bp 3'