Canonical Allele Identifier: CA2695231491

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22094017_22094018del , CM000685.2:g.22094017_22094018del	GRCh38
NC_000023.10:g.22112135_22112136del , CM000685.1:g.22112135_22112136del	GRCh37
NC_000023.9:g.22022056_22022057del	NCBI36
NG_007563.2:g.66215_66216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1193_1194del
ENST00000684143.1:c.764_765del	ENSP00000508264.1:p.Thr255SerfsTer7
ENST00000684745.1:n.441_442del
ENST00000379374.5:c.767_768del MANE Select	ENSP00000368682.4:p.Thr256SerfsTer7
ENST00000379374.4:c.767_768del	ENSP00000368682.4:p.Thr256SerfsTer7
ENST00000475778.1:n.40_41del
NM_000444.5:c.767_768del	NP_000435.3:p.Thr256SerfsTer7
NM_001282754.1:c.767_768del	NP_001269683.1:p.Thr256SerfsTer7
XM_011545533.1:c.11_12del	XP_011543835.1:p.Thr4SerfsTer7
XM_011545534.1:c.11_12del	XP_011543836.1:p.Thr4SerfsTer7
XM_011545535.1:c.767_768del	XP_011543837.1:p.Thr256SerfsTer7
XM_017029579.1:c.11_12del	XP_016885068.1:p.Thr4SerfsTer7
XM_024452390.1:c.476_477del	XP_024308158.1:p.Thr159SerfsTer7
XR_001755695.1:n.1446_1447del
NM_000444.6:c.767_768del MANE Select	NP_000435.3:p.Thr256SerfsTer7
NM_001282754.2:c.767_768del	NP_001269683.1:p.Thr256SerfsTer7