Canonical Allele Identifier: CA645526518
Gene: PHOX2B HGNC NCBI

Linked Data

COSMIC: COSM26711

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746003_41746037del , CM000666.2:g.41746003_41746037del GRCh38
NC_000004.11:g.41748020_41748054del , CM000666.1:g.41748020_41748054del GRCh37
NC_000004.10:g.41442777_41442811del NCBI36
NG_008243.1:g.7941_7975del , LRG_513:g.7941_7975del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.722_756del MANE Select ENSP00000226382.2:p.Ala241GlyfsTer?
ENST00000226382.3:c.722_756del ENSP00000226382.2:p.Ala241GlyfsTer?
NM_003924.3:c.722_756del , LRG_513t1:c.722_756del NP_003915.2:p.Ala241GlyfsTer?
NM_003924.4:c.722_756del MANE Select NP_003915.2:p.Ala241GlyfsTer?