Canonical Allele Identifier: CA2578074972
Gene: PHOX2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745984_41746001del , CM000666.2:g.41745984_41746001del GRCh38
NC_000004.11:g.41748001_41748018del , CM000666.1:g.41748001_41748018del GRCh37
NC_000004.10:g.41442758_41442775del NCBI36
NG_008243.1:g.7978_7995del , LRG_513:g.7978_7995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.759_776del MANE Select ENSP00000226382.2:p.Ala254_Ala259del
ENST00000226382.3:c.759_776del ENSP00000226382.2:p.Ala254_Ala259del
NM_003924.3:c.759_776del , LRG_513t1:c.759_776del NP_003915.2:p.Ala254_Ala259del
NM_003924.4:c.759_776del MANE Select NP_003915.2:p.Ala254_Ala259del
Search 100 bp 5'
Search 100 bp 3'