Canonical Allele Identifier: CA1061554608
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs1733878131
gnomAD v3: 4-41745993-C-CGCG
gnomAD v4: 4-41745993-C-CGCG
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745995_41745996insGGC , CM000666.2:g.41745995_41745996insGGC GRCh38
NC_000004.11:g.41748012_41748013insGGC , CM000666.1:g.41748012_41748013insGGC GRCh37
NC_000004.10:g.41442769_41442770insGGC NCBI36
NG_008243.1:g.7977_7978insCGC , LRG_513:g.7977_7978insCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.758_759insCGC MANE Select ENSP00000226382.2:p.Ala253_Ala254insAla
ENST00000226382.3:c.758_759insCGC ENSP00000226382.2:p.Ala253_Ala254insAla
NM_003924.3:c.758_759insCGC , LRG_513t1:c.758_759insCGC NP_003915.2:p.Ala253_Ala254insAla
NM_003924.4:c.758_759insCGC MANE Select NP_003915.2:p.Ala253_Ala254insAla
Search 100 bp 5'
Search 100 bp 3'