Canonical Allele Identifier: CA2586973788
Gene: PHOX2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745909_41745910insT , CM000666.2:g.41745909_41745910insT GRCh38
NC_000004.11:g.41747926_41747927insT , CM000666.1:g.41747926_41747927insT GRCh37
NC_000004.10:g.41442683_41442684insT NCBI36
NG_008243.1:g.8061_8062insA , LRG_513:g.8061_8062insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.842_843insA MANE Select ENSP00000226382.2:p.Ser282LeufsTer?
ENST00000226382.3:c.842_843insA ENSP00000226382.2:p.Ser282LeufsTer?
NM_003924.3:c.842_843insA , LRG_513t1:c.842_843insA NP_003915.2:p.Ser282LeufsTer?
NM_003924.4:c.842_843insA MANE Select NP_003915.2:p.Ser282LeufsTer?