Canonical Allele Identifier: CA202339
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 196371
ClinVar RCV Id: RCV000177186 RCV000231391 RCV000574621 RCV001579675
dbSNP Id: rs775006915
ExAC: 4:41748013 CGCCGCCGCTGCCGCG / C
gnomAD v2: 4-41748013-CGCCGCCGCTGCCGCG-C
gnomAD v3: 4-41745996-CGCCGCCGCTGCCGCG-C
gnomAD v4: 4-41745996-CGCCGCCGCTGCCGCG-C
MyVariant Identifiers: chr4:g.41748014_41748028del (hg19) chr4:g.41748022_41748040delinsCGCT (hg19) chr4:g.41745997_41746011del (hg38) chr4:g.41746005_41746023delinsCGCT (hg38)
PubMed: PMID:12640453 PMID:17928950 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746005_41746019del , CM000666.2:g.41746005_41746019del GRCh38
NC_000004.11:g.41748022_41748036del , CM000666.1:g.41748022_41748036del GRCh37
NC_000004.10:g.41442779_41442793del NCBI36
NG_008243.1:g.7960_7974del , LRG_513:g.7960_7974del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741_755del MANE Select ENSP00000226382.2:p.Ala248_Ala252del
ENST00000226382.3:c.741_755del ENSP00000226382.2:p.Ala248_Ala252del
NM_003924.3:c.741_755del , LRG_513t1:c.741_755del NP_003915.2:p.Ala248_Ala252del
NM_003924.4:c.741_755del MANE Select NP_003915.2:p.Ala248_Ala252del
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