Canonical Allele Identifier: CA2580071000
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1758614
ClinVar RCV Id: RCV002380410
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745990_41746019dup , CM000666.2:g.41745990_41746019dup GRCh38
NC_000004.11:g.41748007_41748036dup , CM000666.1:g.41748007_41748036dup GRCh37
NC_000004.10:g.41442764_41442793dup NCBI36
NG_008243.1:g.7957_7986dup , LRG_513:g.7957_7986dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.738_767dup MANE Select ENSP00000226382.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000226382.3:c.738_767dup ENSP00000226382.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_003924.3:c.738_767dup , LRG_513t1:c.738_767dup NP_003915.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_003924.4:c.738_767dup MANE Select NP_003915.2:p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
Search 100 bp 5'
Search 100 bp 3'