Canonical Allele Identifier: CA2901373

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 348806
• ClinVar RCV Id: RCV000315071 ; RCV000351160 ; RCV003437106
• dbSNP Id: rs763380864
• ExAC: 4:41747791 TCGCCGCCGC / T
• gnomAD v2: 4-41747791-TCGCCGCCGC-T
• gnomAD v3: 4-41745774-TCGCCGCCGC-T
• gnomAD v4: 4-41745774-TCGCCGCCGC-T
• MyVariant Identifiers: chr4:g.41747792_41747800del (hg19) ; chr4:g.41745775_41745783del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745787_41745795del , CM000666.2:g.41745787_41745795del	GRCh38
NC_000004.11:g.41747804_41747812del , CM000666.1:g.41747804_41747812del	GRCh37
NC_000004.10:g.41442561_41442569del	NCBI36
NG_008243.1:g.8188_8196del , LRG_513:g.8188_8196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.*24_*32del MANE Select	ENSP00000226382.2:n.*24_*32del
ENST00000226382.3:c.*24_*32del	ENSP00000226382.2:n.*24_*32del
NM_003924.3:c.*24_*32del , LRG_513t1:c.*24_*32del	NP_003915.2:n.*24_*32del
NM_003924.4:c.*24_*32del MANE Select	NP_003915.2:n.*24_*32del