Canonical Allele Identifier: CA551141165
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 699464
ClinVar RCV Id: RCV000867295
dbSNP Id: rs1577558924
gnomAD v2: 4-41748001-TGCCGCTGCCGCCGCCGCCGCTGCCGCG-T
gnomAD v4: 4-41745984-TGCCGCTGCCGCCGCCGCCGCTGCCGCG-T
MyVariant Identifiers: chr4:g.41748007_41748034delinsC (hg19) chr4:g.41745990_41746017delinsC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745990_41746016del , CM000666.2:g.41745990_41746016del GRCh38
NC_000004.11:g.41748007_41748033del , CM000666.1:g.41748007_41748033del GRCh37
NC_000004.10:g.41442764_41442790del NCBI36
NG_008243.1:g.7960_7986del , LRG_513:g.7960_7986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741_767del MANE Select ENSP00000226382.2:p.Ala248_Ala256del
ENST00000226382.3:c.741_767del ENSP00000226382.2:p.Ala248_Ala256del
NM_003924.3:c.741_767del , LRG_513t1:c.741_767del NP_003915.2:p.Ala248_Ala256del
NM_003924.4:c.741_767del MANE Select NP_003915.2:p.Ala248_Ala256del
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