Canonical Allele Identifier: CA2578074974
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745993-C-CGCCGCG
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745998_41745999insGGCCGC , CM000666.2:g.41745998_41745999insGGCCGC GRCh38
NC_000004.11:g.41748015_41748016insGGCCGC , CM000666.1:g.41748015_41748016insGGCCGC GRCh37
NC_000004.10:g.41442772_41442773insGGCCGC NCBI36
NG_008243.1:g.7977_7978insCGCGGC , LRG_513:g.7977_7978insCGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.758_759insCGCGGC MANE Select ENSP00000226382.2:p.Ala253_Ala254insAlaAla
ENST00000226382.3:c.758_759insCGCGGC ENSP00000226382.2:p.Ala253_Ala254insAlaAla
NM_003924.3:c.758_759insCGCGGC , LRG_513t1:c.758_759insCGCGGC NP_003915.2:p.Ala253_Ala254insAlaAla
NM_003924.4:c.758_759insCGCGGC MANE Select NP_003915.2:p.Ala253_Ala254insAlaAla
Search 100 bp 5'
Search 100 bp 3'