Canonical Allele Identifier: CA2580100499

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 2074826
• ClinVar RCV Id: RCV002963072

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247919_22247928del , CM000685.2:g.22247919_22247928del	GRCh38
NC_000023.10:g.22266036_22266045del , CM000685.1:g.22266036_22266045del	GRCh37
NC_000023.9:g.22175957_22175966del	NCBI36
NG_007563.2:g.220116_220125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*154_*163del (PHEX)	ENSP00000508059.1:n.*154_*163del
ENST00000683289.1:c.624+20308_624+20317del (PHEX)	ENSP00000508195.1:n.624+20308_624+20317del
ENST00000683917.1:n.1000_1009del (PHEX)
ENST00000684356.1:c.770_779del (PHEX)	ENSP00000507619.1:p.Met257ThrfsTer29
ENST00000684745.1:n.1890_1899del (PHEX)
ENST00000379374.5:c.2216_2225del (PHEX) MANE Select	ENSP00000368682.4:p.Met739ThrfsTer29
ENST00000379374.4:c.2216_2225del (PHEX)	ENSP00000368682.4:p.Met739ThrfsTer29
NM_000444.5:c.2216_2225del (PHEX)	NP_000435.3:p.Met739ThrfsTer29
NM_001282754.1:c.*51_*60del (PHEX)	NP_001269683.1:n.*51_*60del
XM_011545533.1:c.1460_1469del (PHEX)	XP_011543835.1:p.Met487ThrfsTer29
XM_011545534.1:c.1460_1469del (PHEX)	XP_011543836.1:p.Met487ThrfsTer29
XM_011545536.1:c.1109_1118del (PHEX)	XP_011543838.1:p.Met370ThrfsTer29
XR_950533.1:n.140+6011_140+6020del
XR_950534.1:n.127+6011_127+6020del
NR_073010.2:n.850+6011_850+6020del (PTCHD1-AS)
XM_011545536.2:c.1109_1118del (PHEX)	XP_011543838.1:p.Met370ThrfsTer29
XM_017029579.1:c.1460_1469del (PHEX)	XP_016885068.1:p.Met487ThrfsTer29
XM_024452390.1:c.1925_1934del (PHEX)	XP_024308158.1:p.Met642ThrfsTer29
XR_001755695.1:n.3056_3065del (PHEX)
NM_000444.6:c.2216_2225del (PHEX) MANE Select	NP_000435.3:p.Met739ThrfsTer29
NM_001282754.2:c.*51_*60del (PHEX)	NP_001269683.1:n.*51_*60del