Canonical Allele Identifier: CA2695231443

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047150del , CM000685.2:g.22047150del	GRCh38
NC_000023.10:g.22065268del , CM000685.1:g.22065268del	GRCh37
NC_000023.9:g.21975189del	NCBI36
NG_007563.2:g.19348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.714del
ENST00000683214.1:n.544+14027del
ENST00000684143.1:c.288del	ENSP00000508264.1:p.Asp97IlefsTer11
ENST00000379374.5:c.288del MANE Select	ENSP00000368682.4:p.Asp97IlefsTer11
ENST00000379374.4:c.288del	ENSP00000368682.4:p.Asp97IlefsTer11
NM_000444.5:c.288del	NP_000435.3:p.Asp97IlefsTer11
NM_001282754.1:c.288del	NP_001269683.1:p.Asp97IlefsTer11
XM_011545535.1:c.288del	XP_011543837.1:p.Asp97IlefsTer11
XM_024452390.1:c.-4del	XP_024308158.1:n.-4del
XR_001755695.1:n.967del
NM_000444.6:c.288del MANE Select	NP_000435.3:p.Asp97IlefsTer11
NM_001282754.2:c.288del	NP_001269683.1:p.Asp97IlefsTer11