Canonical Allele Identifier: CA1061554524
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1157597283
gnomAD v3: 4-41745978-CGCCGCT-C
gnomAD v4: 4-41745978-CGCCGCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745990_41745995del , CM000666.2:g.41745990_41745995del GRCh38
NC_000004.11:g.41748007_41748012del , CM000666.1:g.41748007_41748012del GRCh37
NC_000004.10:g.41442764_41442769del NCBI36
NG_008243.1:g.7987_7992del , LRG_513:g.7987_7992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.768_773del MANE Select ENSP00000226382.2:p.Ala257_Ala258del
ENST00000226382.3:c.768_773del ENSP00000226382.2:p.Ala257_Ala258del
NM_003924.3:c.768_773del , LRG_513t1:c.768_773del NP_003915.2:p.Ala257_Ala258del
NM_003924.4:c.768_773del MANE Select NP_003915.2:p.Ala257_Ala258del
Search 100 bp 5'
Search 100 bp 3'