Canonical Allele Identifier: CA2549705606

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22047284_22047285insATCTTCGGGAA , CM000685.2:g.22047284_22047285insATCTTCGGGAA	GRCh38
NC_000023.10:g.22065402_22065403insATCTTCGGGAA , CM000685.1:g.22065402_22065403insATCTTCGGGAA	GRCh37
NC_000023.9:g.21975323_21975324insATCTTCGGGAA	NCBI36
NG_007563.2:g.19482_19483insATCTTCGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.775+73_775+74insATCTTCGGGAA
ENST00000683214.1:n.544+14161_544+14162insATCTTCGGGAA
ENST00000684143.1:c.349+73_349+74insATCTTCGGGAA	ENSP00000508264.1:n.349+73_349+74insATCTTCGGGAA
ENST00000379374.5:c.349+73_349+74insATCTTCGGGAA MANE Select	ENSP00000368682.4:n.349+73_349+74insATCTTCGGGAA
ENST00000379374.4:c.349+73_349+74insATCTTCGGGAA	ENSP00000368682.4:n.349+73_349+74insATCTTCGGGAA
NM_000444.5:c.349+73_349+74insATCTTCGGGAA	NP_000435.3:n.349+73_349+74insATCTTCGGGAA
NM_001282754.1:c.349+73_349+74insATCTTCGGGAA	NP_001269683.1:n.349+73_349+74insATCTTCGGGAA
XM_011545535.1:c.349+73_349+74insATCTTCGGGAA	XP_011543837.1:n.349+73_349+74insATCTTCGGGAA
XM_017029579.1:c.-94+73_-94+74insATCTTCGGGAA	XP_016885068.1:n.-94+73_-94+74insATCTTCGGGAA
XM_024452390.1:c.58+73_58+74insATCTTCGGGAA	XP_024308158.1:n.58+73_58+74insATCTTCGGGAA
XR_001755695.1:n.1028+73_1028+74insATCTTCGGGAA
NM_000444.6:c.349+73_349+74insATCTTCGGGAA MANE Select	NP_000435.3:n.349+73_349+74insATCTTCGGGAA
NM_001282754.2:c.349+73_349+74insATCTTCGGGAA	NP_001269683.1:n.349+73_349+74insATCTTCGGGAA