Canonical Allele Identifier: CA2670427148

Gene: PHOX2B

Linked Data

• gnomAD v4: 4-41745991-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745992_41745993del , CM000666.2:g.41745992_41745993del	GRCh38
NC_000004.11:g.41748009_41748010del , CM000666.1:g.41748009_41748010del	GRCh37
NC_000004.10:g.41442766_41442767del	NCBI36
NG_008243.1:g.7978_7979del , LRG_513:g.7978_7979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.759_760del MANE Select	ENSP00000226382.2:p.Ala254SerfsTer?
ENST00000226382.3:c.759_760del	ENSP00000226382.2:p.Ala254SerfsTer?
NM_003924.3:c.759_760del , LRG_513t1:c.759_760del	NP_003915.2:p.Ala254SerfsTer?
NM_003924.4:c.759_760del MANE Select	NP_003915.2:p.Ala254SerfsTer?