Canonical Allele Identifier: CA2670427143
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745981-CGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745987_41746028del , CM000666.2:g.41745987_41746028del GRCh38
NC_000004.11:g.41748004_41748045del , CM000666.1:g.41748004_41748045del GRCh37
NC_000004.10:g.41442761_41442802del NCBI36
NG_008243.1:g.7948_7989del , LRG_513:g.7948_7989del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.729_770del MANE Select ENSP00000226382.2:p.Ala244_Ala257del
ENST00000226382.3:c.729_770del ENSP00000226382.2:p.Ala244_Ala257del
NM_003924.3:c.729_770del , LRG_513t1:c.729_770del NP_003915.2:p.Ala244_Ala257del
NM_003924.4:c.729_770del MANE Select NP_003915.2:p.Ala244_Ala257del
Search 100 bp 5'
Search 100 bp 3'