Canonical Allele Identifier: CA794914401
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1214249067
gnomAD v4: 4-41745999-CGCCGCTGCCGCG-C
MyVariant Identifiers: chr4:g.41748017_41748028del (hg19) chr4:g.41746000_41746011del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746005_41746016del , CM000666.2:g.41746005_41746016del GRCh38
NC_000004.11:g.41748022_41748033del , CM000666.1:g.41748022_41748033del GRCh37
NC_000004.10:g.41442779_41442790del NCBI36
NG_008243.1:g.7960_7971del , LRG_513:g.7960_7971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741_752del MANE Select ENSP00000226382.2:p.Ala248_Ala251del
ENST00000226382.3:c.741_752del ENSP00000226382.2:p.Ala248_Ala251del
NM_003924.3:c.741_752del , LRG_513t1:c.741_752del NP_003915.2:p.Ala248_Ala251del
NM_003924.4:c.741_752del MANE Select NP_003915.2:p.Ala248_Ala251del
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