Canonical Allele Identifier: CA501224

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 505021
• ClinVar RCV Id: RCV000615033 ; RCV003139903 ; RCV003983142 ; RCV002395543
• dbSNP Id: rs779557320
• MyVariant Identifiers: chr4:g.41748002_41748016dup (hg19) ; chr4:g.41745985_41745999dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745996_41746010dup , CM000666.2:g.41745996_41746010dup	GRCh38
NC_000004.11:g.41748013_41748027dup , CM000666.1:g.41748013_41748027dup	GRCh37
NC_000004.10:g.41442770_41442784dup	NCBI36
NG_008243.1:g.7972_7986dup , LRG_513:g.7972_7986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.753_767dup MANE Select	ENSP00000226382.2:p.Ala256_Ala257insAlaAlaAlaAlaAla
ENST00000226382.3:c.753_767dup	ENSP00000226382.2:p.Ala256_Ala257insAlaAlaAlaAlaAla
NM_003924.3:c.753_767dup , LRG_513t1:c.753_767dup	NP_003915.2:p.Ala256_Ala257insAlaAlaAlaAlaAla
NM_003924.4:c.753_767dup MANE Select	NP_003915.2:p.Ala256_Ala257insAlaAlaAlaAlaAla