Canonical Allele Identifier: CA2670427137
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745970-C-CCAGCTGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745972_41745980dup , CM000666.2:g.41745972_41745980dup GRCh38
NC_000004.11:g.41747989_41747997dup , CM000666.1:g.41747989_41747997dup GRCh37
NC_000004.10:g.41442746_41442754dup NCBI36
NG_008243.1:g.7992_8000dup , LRG_513:g.7992_8000dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.773_781dup MANE Select ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAla
ENST00000226382.3:c.773_781dup ENSP00000226382.2:p.Ala260_Gly261insAlaAlaAla
NM_003924.3:c.773_781dup , LRG_513t1:c.773_781dup NP_003915.2:p.Ala260_Gly261insAlaAlaAla
NM_003924.4:c.773_781dup MANE Select NP_003915.2:p.Ala260_Gly261insAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'