Canonical Allele Identifier: CA658657380
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 452239
ClinVar RCV Id: RCV000523130 RCV002481729 RCV003335452
dbSNP Id: rs17879189
gnomAD v4: 4-41745975-T-TGCCGCCGCTGCCGCTGCCGCC
MyVariant Identifiers: chr4:g.41747993_41748013dup (hg19) chr4:g.41745976_41745996dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745990_41746010dup , CM000666.2:g.41745990_41746010dup GRCh38
NC_000004.11:g.41748007_41748027dup , CM000666.1:g.41748007_41748027dup GRCh37
NC_000004.10:g.41442764_41442784dup NCBI36
NG_008243.1:g.7975_7995dup , LRG_513:g.7975_7995dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.756_776dup MANE Select ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
ENST00000226382.3:c.756_776dup ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
NM_003924.3:c.756_776dup , LRG_513t1:c.756_776dup NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
NM_003924.4:c.756_776dup MANE Select NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'