Canonical Allele Identifier: CA1131576514

Gene: PHEX

Linked Data

• dbSNP Id: rs1930006931
• gnomAD v3: X-22093792-CCGT-C
• gnomAD v4: X-22093792-CCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22093794_22093796del , CM000685.2:g.22093794_22093796del	GRCh38
NC_000023.10:g.22111912_22111914del , CM000685.1:g.22111912_22111914del	GRCh37
NC_000023.9:g.22021833_22021835del	NCBI36
NG_007563.2:g.65992_65994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1159-189_1159-187del
ENST00000684143.1:c.730-189_730-187del	ENSP00000508264.1:n.730-189_730-187del
ENST00000684745.1:n.407-189_407-187del
ENST00000379374.5:c.733-189_733-187del MANE Select	ENSP00000368682.4:n.733-189_733-187del
ENST00000379374.4:c.733-189_733-187del	ENSP00000368682.4:n.733-189_733-187del
ENST00000475778.1:n.6-189_6-187del
NM_000444.5:c.733-189_733-187del	NP_000435.3:n.733-189_733-187del
NM_001282754.1:c.733-189_733-187del	NP_001269683.1:n.733-189_733-187del
XM_011545533.1:c.-24-189_-24-187del	XP_011543835.1:n.-24-189_-24-187del
XM_011545534.1:c.-24-189_-24-187del	XP_011543836.1:n.-24-189_-24-187del
XM_011545535.1:c.733-189_733-187del	XP_011543837.1:n.733-189_733-187del
XM_017029579.1:c.-24-189_-24-187del	XP_016885068.1:n.-24-189_-24-187del
XM_024452390.1:c.442-189_442-187del	XP_024308158.1:n.442-189_442-187del
XR_001755695.1:n.1412-189_1412-187del
NM_000444.6:c.733-189_733-187del MANE Select	NP_000435.3:n.733-189_733-187del
NM_001282754.2:c.733-189_733-187del	NP_001269683.1:n.733-189_733-187del