Canonical Allele Identifier: CA2573158557

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1390225
• ClinVar RCV Id: RCV001890894
• dbSNP Id: rs2147217365

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247917_22247937del , CM000685.2:g.22247917_22247937del	GRCh38
NC_000023.10:g.22266034_22266054del , CM000685.1:g.22266034_22266054del	GRCh37
NC_000023.9:g.22175955_22175975del	NCBI36
NG_007563.2:g.220114_220134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*152_*172del (PHEX)	ENSP00000508059.1:n.*152_*172del
ENST00000683289.1:c.624+20306_624+20326del (PHEX)	ENSP00000508195.1:n.624+20306_624+20326del
ENST00000683917.1:n.998_1018del (PHEX)
ENST00000684356.1:c.768_788del (PHEX)	ENSP00000507619.1:p.Met257_Ser263del
ENST00000684745.1:n.1888_1908del (PHEX)
ENST00000379374.5:c.2214_2234del (PHEX) MANE Select	ENSP00000368682.4:p.Met739_Ser745del
ENST00000379374.4:c.2214_2234del (PHEX)	ENSP00000368682.4:p.Met739_Ser745del
NM_000444.5:c.2214_2234del (PHEX)	NP_000435.3:p.Met739_Ser745del
NM_001282754.1:c.*49_*69del (PHEX)	NP_001269683.1:n.*49_*69del
XM_011545533.1:c.1458_1478del (PHEX)	XP_011543835.1:p.Met487_Ser493del
XM_011545534.1:c.1458_1478del (PHEX)	XP_011543836.1:p.Met487_Ser493del
XM_011545536.1:c.1107_1127del (PHEX)	XP_011543838.1:p.Met370_Ser376del
XR_950533.1:n.140+6003_140+6023del
XR_950534.1:n.127+6003_127+6023del
NR_073010.2:n.850+6003_850+6023del (PTCHD1-AS)
XM_011545536.2:c.1107_1127del (PHEX)	XP_011543838.1:p.Met370_Ser376del
XM_017029579.1:c.1458_1478del (PHEX)	XP_016885068.1:p.Met487_Ser493del
XM_024452390.1:c.1923_1943del (PHEX)	XP_024308158.1:p.Met642_Ser648del
XR_001755695.1:n.3054_3074del (PHEX)
NM_000444.6:c.2214_2234del (PHEX) MANE Select	NP_000435.3:p.Met739_Ser745del
NM_001282754.2:c.*49_*69del (PHEX)	NP_001269683.1:n.*49_*69del