Canonical Allele Identifier: CA551141162
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1560465535
gnomAD v2: 4-41747992-TGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCG-T
gnomAD v3: 4-41745975-TGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCG-T
gnomAD v4: 4-41745975-TGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCG-T
MyVariant Identifiers: chr4:g.41747996_41748031del (hg19) chr4:g.41745979_41746014del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745984_41746019del , CM000666.2:g.41745984_41746019del GRCh38
NC_000004.11:g.41748001_41748036del , CM000666.1:g.41748001_41748036del GRCh37
NC_000004.10:g.41442758_41442793del NCBI36
NG_008243.1:g.7960_7995del , LRG_513:g.7960_7995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.741_776del MANE Select ENSP00000226382.2:p.Ala248_Ala259del
ENST00000226382.3:c.741_776del ENSP00000226382.2:p.Ala248_Ala259del
NM_003924.3:c.741_776del , LRG_513t1:c.741_776del NP_003915.2:p.Ala248_Ala259del
NM_003924.4:c.741_776del MANE Select NP_003915.2:p.Ala248_Ala259del
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