Canonical Allele Identifier: CA551141161

Gene: PHOX2B

Linked Data

• dbSNP Id: rs1560465524
• gnomAD v2: 4-41747989-AGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC-A
• gnomAD v3: 4-41745972-AGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC-A
• gnomAD v4: 4-41745972-AGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC-A
• MyVariant Identifiers: chr4:g.41747990_41748019del (hg19) ; chr4:g.41745973_41746002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745981_41746010del , CM000666.2:g.41745981_41746010del	GRCh38
NC_000004.11:g.41747998_41748027del , CM000666.1:g.41747998_41748027del	GRCh37
NC_000004.10:g.41442755_41442784del	NCBI36
NG_008243.1:g.7969_7998del , LRG_513:g.7969_7998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.750_779del MANE Select	ENSP00000226382.2:p.Ala251_Ala260del
ENST00000226382.3:c.750_779del	ENSP00000226382.2:p.Ala251_Ala260del
NM_003924.3:c.750_779del , LRG_513t1:c.750_779del	NP_003915.2:p.Ala251_Ala260del
NM_003924.4:c.750_779del MANE Select	NP_003915.2:p.Ala251_Ala260del