Canonical Allele Identifier: CA2695231500

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097002_22097003del , CM000685.2:g.22097002_22097003del	GRCh38
NC_000023.10:g.22115120_22115121del , CM000685.1:g.22115120_22115121del	GRCh37
NC_000023.9:g.22025041_22025042del	NCBI36
NG_007563.2:g.69200_69201del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475778.2:n.1323_1324del
ENST00000684143.1:c.894_895del	ENSP00000508264.1:p.Lys298AsnfsTer5
ENST00000684745.1:n.571_572del
ENST00000379374.5:c.897_898del MANE Select	ENSP00000368682.4:p.Lys299AsnfsTer5
ENST00000379374.4:c.897_898del	ENSP00000368682.4:p.Lys299AsnfsTer5
ENST00000475778.1:n.170_171del
NM_000444.5:c.897_898del	NP_000435.3:p.Lys299AsnfsTer5
NM_001282754.1:c.897_898del	NP_001269683.1:p.Lys299AsnfsTer5
XM_011545533.1:c.141_142del	XP_011543835.1:p.Lys47AsnfsTer5
XM_011545534.1:c.141_142del	XP_011543836.1:p.Lys47AsnfsTer5
XM_011545535.1:c.897_898del	XP_011543837.1:p.Lys299AsnfsTer5
XM_017029579.1:c.141_142del	XP_016885068.1:p.Lys47AsnfsTer5
XM_024452390.1:c.606_607del	XP_024308158.1:p.Lys202AsnfsTer5
XR_001755695.1:n.1576_1577del
NM_000444.6:c.897_898del MANE Select	NP_000435.3:p.Lys299AsnfsTer5
NM_001282754.2:c.897_898del	NP_001269683.1:p.Lys299AsnfsTer5