Canonical Allele Identifier: CA2670427156
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746011-GGCCGCCGCCGCTGCTGCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746014_41746031del , CM000666.2:g.41746014_41746031del GRCh38
NC_000004.11:g.41748031_41748048del , CM000666.1:g.41748031_41748048del GRCh37
NC_000004.10:g.41442788_41442805del NCBI36
NG_008243.1:g.7942_7959del , LRG_513:g.7942_7959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.723_740del MANE Select ENSP00000226382.2:p.Ala242_Ala247del
ENST00000226382.3:c.723_740del ENSP00000226382.2:p.Ala242_Ala247del
NM_003924.3:c.723_740del , LRG_513t1:c.723_740del NP_003915.2:p.Ala242_Ala247del
NM_003924.4:c.723_740del MANE Select NP_003915.2:p.Ala242_Ala247del
Search 100 bp 5'
Search 100 bp 3'