Canonical Allele Identifier: CA2820020465

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22133636_22133643del , CM000685.2:g.22133636_22133643del	GRCh38
NC_000023.10:g.22151753_22151760del , CM000685.1:g.22151753_22151760del	GRCh37
NC_000023.9:g.22061674_22061681del	NCBI36
NG_007563.2:g.105833_105840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684745.1:n.1078+12_1078+19del
ENST00000379374.5:c.1404+12_1404+19del MANE Select	ENSP00000368682.4:n.1404+12_1404+19del
ENST00000379374.4:c.1404+12_1404+19del	ENSP00000368682.4:n.1404+12_1404+19del
NM_000444.5:c.1404+12_1404+19del	NP_000435.3:n.1404+12_1404+19del
NM_001282754.1:c.1404+12_1404+19del	NP_001269683.1:n.1404+12_1404+19del
XM_011545533.1:c.648+12_648+19del	XP_011543835.1:n.648+12_648+19del
XM_011545534.1:c.648+12_648+19del	XP_011543836.1:n.648+12_648+19del
XM_011545535.1:c.1404+12_1404+19del	XP_011543837.1:n.1404+12_1404+19del
XM_011545536.1:c.297+12_297+19del	XP_011543838.1:n.297+12_297+19del
XM_011545536.2:c.297+12_297+19del	XP_011543838.1:n.297+12_297+19del
XM_017029579.1:c.648+12_648+19del	XP_016885068.1:n.648+12_648+19del
XM_024452390.1:c.1113+12_1113+19del	XP_024308158.1:n.1113+12_1113+19del
XR_001755695.1:n.2083+12_2083+19del
NM_000444.6:c.1404+12_1404+19del MANE Select	NP_000435.3:n.1404+12_1404+19del
NM_001282754.2:c.1404+12_1404+19del	NP_001269683.1:n.1404+12_1404+19del