Canonical Allele Identifier: CA551141170
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v2: 4-41748022-TGCCGCGGCCGCCGCC-T
gnomAD v4: 4-41746005-TGCCGCGGCCGCCGCC-T
MyVariant Identifiers: chr4:g.41748023_41748037del (hg19) chr4:g.41746006_41746020del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746008_41746022del , CM000666.2:g.41746008_41746022del GRCh38
NC_000004.11:g.41748025_41748039del , CM000666.1:g.41748025_41748039del GRCh37
NC_000004.10:g.41442782_41442796del NCBI36
NG_008243.1:g.7951_7965del , LRG_513:g.7951_7965del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.732_746del MANE Select ENSP00000226382.2:p.Ala245_Ala249del
ENST00000226382.3:c.732_746del ENSP00000226382.2:p.Ala245_Ala249del
NM_003924.3:c.732_746del , LRG_513t1:c.732_746del NP_003915.2:p.Ala245_Ala249del
NM_003924.4:c.732_746del MANE Select NP_003915.2:p.Ala245_Ala249del
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