Canonical Allele Identifier: CA2670427141
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745975-TGCC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745981_41745983del , CM000666.2:g.41745981_41745983del GRCh38
NC_000004.11:g.41747998_41748000del , CM000666.1:g.41747998_41748000del GRCh37
NC_000004.10:g.41442755_41442757del NCBI36
NG_008243.1:g.7993_7995del , LRG_513:g.7993_7995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.774_776del MANE Select ENSP00000226382.2:p.Ala259del
ENST00000226382.3:c.774_776del ENSP00000226382.2:p.Ala259del
NM_003924.3:c.774_776del , LRG_513t1:c.774_776del NP_003915.2:p.Ala259del
NM_003924.4:c.774_776del MANE Select NP_003915.2:p.Ala259del
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Search 100 bp 3'