Canonical Allele Identifier: CA2837994999

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093995del , CM000685.2:g.22093995del	GRCh38
NC_000023.10:g.22112113del , CM000685.1:g.22112113del	GRCh37
NC_000023.9:g.22022034del	NCBI36
NG_007563.2:g.66193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1171del
ENST00000684143.1:c.742del	ENSP00000508264.1:p.Leu248PhefsTer12
ENST00000684745.1:n.419del
ENST00000379374.5:c.745del MANE Select	ENSP00000368682.4:p.Leu249PhefsTer12
ENST00000379374.4:c.745del	ENSP00000368682.4:p.Leu249PhefsTer12
ENST00000475778.1:n.18del
NM_000444.5:c.745del	NP_000435.3:p.Leu249PhefsTer12
NM_001282754.1:c.745del	NP_001269683.1:p.Leu249PhefsTer12
XM_011545533.1:c.-12del	XP_011543835.1:n.-12del
XM_011545534.1:c.-12del	XP_011543836.1:n.-12del
XM_011545535.1:c.745del	XP_011543837.1:p.Leu249PhefsTer12
XM_017029579.1:c.-12del	XP_016885068.1:n.-12del
XM_024452390.1:c.454del	XP_024308158.1:p.Leu152PhefsTer12
XR_001755695.1:n.1424del
NM_000444.6:c.745del MANE Select	NP_000435.3:p.Leu249PhefsTer12
NM_001282754.2:c.745del	NP_001269683.1:p.Leu249PhefsTer12