Canonical Allele Identifier: CA2695231440

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047083del , CM000685.2:g.22047083del	GRCh38
NC_000023.10:g.22065201del , CM000685.1:g.22065201del	GRCh37
NC_000023.9:g.21975122del	NCBI36
NG_007563.2:g.19281del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.647del
ENST00000683214.1:n.544+13960del
ENST00000684143.1:c.221del	ENSP00000508264.1:p.Val74GlyfsTer16
ENST00000379374.5:c.221del MANE Select	ENSP00000368682.4:p.Val74GlyfsTer16
ENST00000379374.4:c.221del	ENSP00000368682.4:p.Val74GlyfsTer16
NM_000444.5:c.221del	NP_000435.3:p.Val74GlyfsTer16
NM_001282754.1:c.221del	NP_001269683.1:p.Val74GlyfsTer16
XM_011545535.1:c.221del	XP_011543837.1:p.Val74GlyfsTer16
XM_024452390.1:c.-71del	XP_024308158.1:n.-71del
XR_001755695.1:n.900del
NM_000444.6:c.221del MANE Select	NP_000435.3:p.Val74GlyfsTer16
NM_001282754.2:c.221del	NP_001269683.1:p.Val74GlyfsTer16