Canonical Allele Identifier: CA2695231501

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22097004_22097005del , CM000685.2:g.22097004_22097005del	GRCh38
NC_000023.10:g.22115122_22115123del , CM000685.1:g.22115122_22115123del	GRCh37
NC_000023.9:g.22025043_22025044del	NCBI36
NG_007563.2:g.69202_69203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1325_1326del
ENST00000684143.1:c.896_897del	ENSP00000508264.1:p.Met299LysfsTer4
ENST00000684745.1:n.573_574del
ENST00000379374.5:c.899_900del MANE Select	ENSP00000368682.4:p.Met300LysfsTer4
ENST00000379374.4:c.899_900del	ENSP00000368682.4:p.Met300LysfsTer4
ENST00000475778.1:n.172_173del
NM_000444.5:c.899_900del	NP_000435.3:p.Met300LysfsTer4
NM_001282754.1:c.899_900del	NP_001269683.1:p.Met300LysfsTer4
XM_011545533.1:c.143_144del	XP_011543835.1:p.Met48LysfsTer4
XM_011545534.1:c.143_144del	XP_011543836.1:p.Met48LysfsTer4
XM_011545535.1:c.899_900del	XP_011543837.1:p.Met300LysfsTer4
XM_017029579.1:c.143_144del	XP_016885068.1:p.Met48LysfsTer4
XM_024452390.1:c.608_609del	XP_024308158.1:p.Met203LysfsTer4
XR_001755695.1:n.1578_1579del
NM_000444.6:c.899_900del MANE Select	NP_000435.3:p.Met300LysfsTer4
NM_001282754.2:c.899_900del	NP_001269683.1:p.Met300LysfsTer4