Canonical Allele Identifier: CA2670427139
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745972-AGCTGCCGCCGCTGCCGCTGCC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745975_41745995del , CM000666.2:g.41745975_41745995del GRCh38
NC_000004.11:g.41747992_41748012del , CM000666.1:g.41747992_41748012del GRCh37
NC_000004.10:g.41442749_41442769del NCBI36
NG_008243.1:g.7978_7998del , LRG_513:g.7978_7998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.759_779del MANE Select ENSP00000226382.2:p.Ala254_Ala260del
ENST00000226382.3:c.759_779del ENSP00000226382.2:p.Ala254_Ala260del
NM_003924.3:c.759_779del , LRG_513t1:c.759_779del NP_003915.2:p.Ala254_Ala260del
NM_003924.4:c.759_779del MANE Select NP_003915.2:p.Ala254_Ala260del
Search 100 bp 5'
Search 100 bp 3'