Canonical Allele Identifier: CA2551916554

Gene: PHEX

Linked Data

• gnomAD v4: X-22076553-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076556_22076558del , CM000685.2:g.22076556_22076558del	GRCh38
NC_000023.10:g.22094674_22094676del , CM000685.1:g.22094674_22094676del	GRCh37
NC_000023.9:g.22004595_22004597del	NCBI36
NG_007563.2:g.48754_48756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.862+82_862+84del
ENST00000683214.1:n.545-920_545-918del
ENST00000684143.1:c.436+82_436+84del	ENSP00000508264.1:n.436+82_436+84del
ENST00000684745.1:n.113+82_113+84del
ENST00000379374.5:c.436+82_436+84del MANE Select	ENSP00000368682.4:n.436+82_436+84del
ENST00000379374.4:c.436+82_436+84del	ENSP00000368682.4:n.436+82_436+84del
NM_000444.5:c.436+82_436+84del	NP_000435.3:n.436+82_436+84del
NM_001282754.1:c.436+82_436+84del	NP_001269683.1:n.436+82_436+84del
XM_011545535.1:c.436+82_436+84del	XP_011543837.1:n.436+82_436+84del
XM_017029579.1:c.-93-13873_-93-13871del	XP_016885068.1:n.-93-13873_-93-13871del
XM_024452390.1:c.145+82_145+84del	XP_024308158.1:n.145+82_145+84del
XR_001755695.1:n.1115+82_1115+84del
NM_000444.6:c.436+82_436+84del MANE Select	NP_000435.3:n.436+82_436+84del
NM_001282754.2:c.436+82_436+84del	NP_001269683.1:n.436+82_436+84del