Canonical Allele Identifier: CA95828409
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 984923
ClinVar RCV Id: RCV001265554 RCV002379968
dbSNP Id: rs757020181
MyVariant Identifiers: chr4:g.41747992_41747993insGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC (hg19) chr4:g.41745975_41745976insGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745987_41746025dup , CM000666.2:g.41745987_41746025dup GRCh38
NC_000004.11:g.41748004_41748042dup , CM000666.1:g.41748004_41748042dup GRCh37
NC_000004.10:g.41442761_41442799dup NCBI36
NG_008243.1:g.7957_7995dup , LRG_513:g.7957_7995dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.738_776dup MANE Select ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000226382.3:c.738_776dup ENSP00000226382.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.3:c.738_776dup , LRG_513t1:c.738_776dup NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.4:c.738_776dup MANE Select NP_003915.2:p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaA...
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