Canonical Allele Identifier: CA2670427163
Gene: PHOX2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746029_41746030del , CM000666.2:g.41746029_41746030del GRCh38
NC_000004.11:g.41748046_41748047del , CM000666.1:g.41748046_41748047del GRCh37
NC_000004.10:g.41442803_41442804del NCBI36
NG_008243.1:g.7941_7942del , LRG_513:g.7941_7942del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.722_723del MANE Select ENSP00000226382.2:p.Ala241GlyfsTer?
ENST00000226382.3:c.722_723del ENSP00000226382.2:p.Ala241GlyfsTer?
NM_003924.3:c.722_723del , LRG_513t1:c.722_723del NP_003915.2:p.Ala241GlyfsTer?
NM_003924.4:c.722_723del MANE Select NP_003915.2:p.Ala241GlyfsTer?