Canonical Allele Identifier: CA645526519

Gene: PHOX2B

Linked Data

• gnomAD v4: 4-41746011-GGCCGCCGCCGCTGCTGCTGC-G
• COSMIC: COSM26710

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746018_41746037del , CM000666.2:g.41746018_41746037del	GRCh38
NC_000004.11:g.41748035_41748054del , CM000666.1:g.41748035_41748054del	GRCh37
NC_000004.10:g.41442792_41442811del	NCBI36
NG_008243.1:g.7940_7959del , LRG_513:g.7940_7959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.721_740del MANE Select	ENSP00000226382.2:p.Ala241ArgfsTer?
ENST00000226382.3:c.721_740del	ENSP00000226382.2:p.Ala241ArgfsTer?
NM_003924.3:c.721_740del , LRG_513t1:c.721_740del	NP_003915.2:p.Ala241ArgfsTer?
NM_003924.4:c.721_740del MANE Select	NP_003915.2:p.Ala241ArgfsTer?