Canonical Allele Identifier: CA2670427142

Gene: PHOX2B

Linked Data

• gnomAD v4: 4-41745977-CCGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745979_41745983del , CM000666.2:g.41745979_41745983del	GRCh38
NC_000004.11:g.41747996_41748000del , CM000666.1:g.41747996_41748000del	GRCh37
NC_000004.10:g.41442753_41442757del	NCBI36
NG_008243.1:g.7989_7993del , LRG_513:g.7989_7993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.770_774del MANE Select	ENSP00000226382.2:p.Ala257GlyfsTer?
ENST00000226382.3:c.770_774del	ENSP00000226382.2:p.Ala257GlyfsTer?
NM_003924.3:c.770_774del , LRG_513t1:c.770_774del	NP_003915.2:p.Ala257GlyfsTer?
NM_003924.4:c.770_774del MANE Select	NP_003915.2:p.Ala257GlyfsTer?