Canonical Allele Identifier: CA658796423
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs772448418
gnomAD v4: 4-41746002-C-CGCTGCCGCGGCCGCCGCCGCT
MyVariant Identifiers: chr4:g.41748025_41748045dup (hg19) chr4:g.41746008_41746028dup (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746008_41746028dup , CM000666.2:g.41746008_41746028dup GRCh38
NC_000004.11:g.41748025_41748045dup , CM000666.1:g.41748025_41748045dup GRCh37
NC_000004.10:g.41442782_41442802dup NCBI36
NG_008243.1:g.7948_7968dup , LRG_513:g.7948_7968dup

Transcript Alleles

HGVS Amino-acid change
ENST00000226382.4:c.729_749dup MANE Select ENSP00000226382.2:p.Ala250_Ala251insAlaAlaAlaAlaAlaAlaAla
ENST00000226382.3:c.729_749dup ENSP00000226382.2:p.Ala250_Ala251insAlaAlaAlaAlaAlaAlaAla
NM_003924.3:c.729_749dup , LRG_513t1:c.729_749dup NP_003915.2:p.Ala250_Ala251insAlaAlaAlaAlaAlaAlaAla
NM_003924.4:c.729_749dup MANE Select NP_003915.2:p.Ala250_Ala251insAlaAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'