Canonical Allele Identifier: CA2586973825
Gene: PHOX2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746305_41746306delinsAA , CM000666.2:g.41746305_41746306delinsAA GRCh38
NC_000004.11:g.41748322_41748323delinsAA , CM000666.1:g.41748322_41748323delinsAA GRCh37
NC_000004.10:g.41443079_41443080delinsAA NCBI36
NG_008243.1:g.7665_7666delinsTT , LRG_513:g.7665_7666delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.446_447delinsTT MANE Select ENSP00000226382.2:p.Arg149Leu
ENST00000226382.3:c.446_447delinsTT ENSP00000226382.2:p.Arg149Leu
ENST00000510424.2:n.267_268delinsTT
NM_003924.3:c.446_447delinsTT , LRG_513t1:c.446_447delinsTT NP_003915.2:p.Arg149Leu
NM_003924.4:c.446_447delinsTT MANE Select NP_003915.2:p.Arg149Leu
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