Canonical Allele Identifier: CA2695231488

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094000_22094001del , CM000685.2:g.22094000_22094001del	GRCh38
NC_000023.10:g.22112118_22112119del , CM000685.1:g.22112118_22112119del	GRCh37
NC_000023.9:g.22022039_22022040del	NCBI36
NG_007563.2:g.66198_66199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1176_1177del
ENST00000684143.1:c.747_748del	ENSP00000508264.1:p.Tyr249Ter
ENST00000684745.1:n.424_425del
ENST00000379374.5:c.750_751del MANE Select	ENSP00000368682.4:p.Tyr250Ter
ENST00000379374.4:c.750_751del	ENSP00000368682.4:p.Tyr250Ter
ENST00000475778.1:n.23_24del
NM_000444.5:c.750_751del	NP_000435.3:p.Tyr250Ter
NM_001282754.1:c.750_751del	NP_001269683.1:p.Tyr250Ter
XM_011545533.1:c.-7_-6del	XP_011543835.1:n.-7_-6del
XM_011545534.1:c.-7_-6del	XP_011543836.1:n.-7_-6del
XM_011545535.1:c.750_751del	XP_011543837.1:p.Tyr250Ter
XM_017029579.1:c.-7_-6del	XP_016885068.1:n.-7_-6del
XM_024452390.1:c.459_460del	XP_024308158.1:p.Tyr153Ter
XR_001755695.1:n.1429_1430del
NM_000444.6:c.750_751del MANE Select	NP_000435.3:p.Tyr250Ter
NM_001282754.2:c.750_751del	NP_001269683.1:p.Tyr250Ter