Canonical Allele Identifier: CA2419152385

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047165_22047166delinsTG , CM000685.2:g.22047165_22047166delinsTG	GRCh38
NC_000023.10:g.22065283_22065284delinsTG , CM000685.1:g.22065283_22065284delinsTG	GRCh37
NC_000023.9:g.21975204_21975205delinsTG	NCBI36
NG_007563.2:g.19363_19364delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.729_730delinsTG
ENST00000683214.1:n.544+14042_544+14043delinsTG
ENST00000684143.1:c.303_304delinsTG	ENSP00000508264.1:p.Tyr101=
ENST00000379374.5:c.303_304delinsTG MANE Select	ENSP00000368682.4:p.Tyr101=
ENST00000379374.4:c.303_304delinsTG	ENSP00000368682.4:p.Tyr101=
NM_000444.5:c.303_304delinsTG	NP_000435.3:p.Tyr101=
NM_001282754.1:c.303_304delinsTG	NP_001269683.1:p.Tyr101=
XM_011545535.1:c.303_304delinsTG	XP_011543837.1:p.Tyr101=
XM_024452390.1:c.12_13delinsTG	XP_024308158.1:p.Tyr4=
XR_001755695.1:n.982_983delinsTG
NM_000444.6:c.303_304delinsTG MANE Select	NP_000435.3:p.Tyr101=
NM_001282754.2:c.303_304delinsTG	NP_001269683.1:p.Tyr101=