Canonical Allele Identifier: CA2670427164
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746041-G-GTCTCTTATACA
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746041_41746042insTCTCTTATACA , CM000666.2:g.41746041_41746042insTCTCTTATACA GRCh38
NC_000004.11:g.41748058_41748059insTCTCTTATACA , CM000666.1:g.41748058_41748059insTCTCTTATACA GRCh37
NC_000004.10:g.41442815_41442816insTCTCTTATACA NCBI36
NG_008243.1:g.7929_7930insTGTATAAGAGA , LRG_513:g.7929_7930insTGTATAAGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.710_711insTGTATAAGAGA MANE Select ENSP00000226382.2:p.Lys238ValfsTer2
ENST00000226382.3:c.710_711insTGTATAAGAGA ENSP00000226382.2:p.Lys238ValfsTer2
ENST00000510424.2:n.531_532insTGTATAAGAGA
NM_003924.3:c.710_711insTGTATAAGAGA , LRG_513t1:c.710_711insTGTATAAGAGA NP_003915.2:p.Lys238ValfsTer2
NM_003924.4:c.710_711insTGTATAAGAGA MANE Select NP_003915.2:p.Lys238ValfsTer2
Search 100 bp 5'
Search 100 bp 3'