Canonical Allele Identifier: CA2695231533

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22114461_22114462del , CM000685.2:g.22114461_22114462del	GRCh38
NC_000023.10:g.22132579_22132580del , CM000685.1:g.22132579_22132580del	GRCh37
NC_000023.9:g.22042500_22042501del	NCBI36
NG_007563.2:g.86659_86660del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684143.1:c.1174_1175del	ENSP00000508264.1:p.Ile392ProfsTer18
ENST00000684745.1:n.851_852del
ENST00000379374.5:c.1177_1178del MANE Select	ENSP00000368682.4:p.Ile393ProfsTer18
ENST00000379374.4:c.1177_1178del	ENSP00000368682.4:p.Ile393ProfsTer18
NM_000444.5:c.1177_1178del	NP_000435.3:p.Ile393ProfsTer18
NM_001282754.1:c.1177_1178del	NP_001269683.1:p.Ile393ProfsTer18
XM_011545533.1:c.421_422del	XP_011543835.1:p.Ile141ProfsTer18
XM_011545534.1:c.421_422del	XP_011543836.1:p.Ile141ProfsTer18
XM_011545535.1:c.1177_1178del	XP_011543837.1:p.Ile393ProfsTer18
XM_011545536.1:c.70_71del	XP_011543838.1:p.Ile24ProfsTer18
XM_011545536.2:c.70_71del	XP_011543838.1:p.Ile24ProfsTer18
XM_017029579.1:c.421_422del	XP_016885068.1:p.Ile141ProfsTer18
XM_024452390.1:c.886_887del	XP_024308158.1:p.Ile296ProfsTer18
XR_001755695.1:n.1856_1857del
NM_000444.6:c.1177_1178del MANE Select	NP_000435.3:p.Ile393ProfsTer18
NM_001282754.2:c.1177_1178del	NP_001269683.1:p.Ile393ProfsTer18