Canonical Allele Identifier: CA2579572266

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178328del , CM000685.2:g.22178328del	GRCh38
NC_000023.10:g.22196445del , CM000685.1:g.22196445del	GRCh37
NC_000023.9:g.22106366del	NCBI36
NG_007563.2:g.150525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.92del	ENSP00000508003.1:p.Leu31Ter
ENST00000683162.1:c.92del	ENSP00000508059.1:p.Leu31Ter
ENST00000683289.1:c.92del	ENSP00000508195.1:p.Leu31Ter
ENST00000683917.1:n.322del
ENST00000684356.1:c.92del	ENSP00000507619.1:p.Leu31Ter
ENST00000684745.1:n.1212del
ENST00000379374.5:c.1538del MANE Select	ENSP00000368682.4:p.Leu513Ter
ENST00000379374.4:c.1538del	ENSP00000368682.4:p.Leu513Ter
NM_000444.5:c.1538del	NP_000435.3:p.Leu513Ter
NM_001282754.1:c.1538del	NP_001269683.1:p.Leu513Ter
XM_011545533.1:c.782del	XP_011543835.1:p.Leu261Ter
XM_011545534.1:c.782del	XP_011543836.1:p.Leu261Ter
XM_011545536.1:c.431del	XP_011543838.1:p.Leu144Ter
XM_011545536.2:c.431del	XP_011543838.1:p.Leu144Ter
XM_017029579.1:c.782del	XP_016885068.1:p.Leu261Ter
XM_024452390.1:c.1247del	XP_024308158.1:p.Leu416Ter
XR_001755695.1:n.2378del
NM_000444.6:c.1538del MANE Select	NP_000435.3:p.Leu513Ter
NM_001282754.2:c.1538del	NP_001269683.1:p.Leu513Ter