Canonical Allele Identifier: CA640416933

Gene: PHEX

Linked Data

• dbSNP Id: rs1382237264
• gnomAD v2: X-22196502-TAAAC-T
• gnomAD v4: X-22178385-TAAAC-T
• MyVariant Identifiers: chrX:g.22196503_22196506del (hg19) ; chrX:g.22178386_22178389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178389_22178392del , CM000685.2:g.22178389_22178392del	GRCh38
NC_000023.10:g.22196506_22196509del , CM000685.1:g.22196506_22196509del	GRCh37
NC_000023.9:g.22106427_22106430del	NCBI36
NG_007563.2:g.150586_150589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.140+13_140+16del	ENSP00000508003.1:n.140+13_140+16del
ENST00000683162.1:c.140+13_140+16del	ENSP00000508059.1:n.140+13_140+16del
ENST00000683289.1:c.140+13_140+16del	ENSP00000508195.1:n.140+13_140+16del
ENST00000683917.1:n.370+13_370+16del
ENST00000684356.1:c.140+13_140+16del	ENSP00000507619.1:n.140+13_140+16del
ENST00000684745.1:n.1260+13_1260+16del
ENST00000379374.5:c.1586+13_1586+16del MANE Select	ENSP00000368682.4:n.1586+13_1586+16del
ENST00000379374.4:c.1586+13_1586+16del	ENSP00000368682.4:n.1586+13_1586+16del
NM_000444.5:c.1586+13_1586+16del	NP_000435.3:n.1586+13_1586+16del
NM_001282754.1:c.1586+13_1586+16del	NP_001269683.1:n.1586+13_1586+16del
XM_011545533.1:c.830+13_830+16del	XP_011543835.1:n.830+13_830+16del
XM_011545534.1:c.830+13_830+16del	XP_011543836.1:n.830+13_830+16del
XM_011545536.1:c.479+13_479+16del	XP_011543838.1:n.479+13_479+16del
XM_011545536.2:c.479+13_479+16del	XP_011543838.1:n.479+13_479+16del
XM_017029579.1:c.830+13_830+16del	XP_016885068.1:n.830+13_830+16del
XM_024452390.1:c.1295+13_1295+16del	XP_024308158.1:n.1295+13_1295+16del
XR_001755695.1:n.2426+13_2426+16del
NM_000444.6:c.1586+13_1586+16del MANE Select	NP_000435.3:n.1586+13_1586+16del
NM_001282754.2:c.1586+13_1586+16del	NP_001269683.1:n.1586+13_1586+16del