Canonical Allele Identifier: CA873922626

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1399594444
• gnomAD v3: X-22247681-GTTAATT-G
• gnomAD v4: X-22247681-GTTAATT-G
• MyVariant Identifiers: chrX:g.22265799_22265804del (hg19) ; chrX:g.22247682_22247687del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247684_22247689del , CM000685.2:g.22247684_22247689del	GRCh38
NC_000023.10:g.22265801_22265806del , CM000685.1:g.22265801_22265806del	GRCh37
NC_000023.9:g.22175722_22175727del	NCBI36
NG_007563.2:g.219881_219886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*86-167_*86-162del (PHEX)	ENSP00000508059.1:n.*86-167_*86-162del
ENST00000683289.1:c.624+20073_624+20078del (PHEX)	ENSP00000508195.1:n.624+20073_624+20078del
ENST00000683917.1:n.932-167_932-162del (PHEX)
ENST00000684356.1:c.702-167_702-162del (PHEX)	ENSP00000507619.1:n.702-167_702-162del
ENST00000684745.1:n.1822-167_1822-162del (PHEX)
ENST00000379374.5:c.2148-167_2148-162del (PHEX) MANE Select	ENSP00000368682.4:n.2148-167_2148-162del
ENST00000379374.4:c.2148-167_2148-162del (PHEX)	ENSP00000368682.4:n.2148-167_2148-162del
NM_000444.5:c.2148-167_2148-162del (PHEX)	NP_000435.3:n.2148-167_2148-162del
NM_001282754.1:c.2071-167_2071-162del (PHEX)	NP_001269683.1:n.2071-167_2071-162del
XM_011545533.1:c.1392-167_1392-162del (PHEX)	XP_011543835.1:n.1392-167_1392-162del
XM_011545534.1:c.1392-167_1392-162del (PHEX)	XP_011543836.1:n.1392-167_1392-162del
XM_011545536.1:c.1041-167_1041-162del (PHEX)	XP_011543838.1:n.1041-167_1041-162del
XR_950533.1:n.140+6252_140+6257del
XR_950534.1:n.127+6252_127+6257del
NR_073010.2:n.850+6252_850+6257del (PTCHD1-AS)
XM_011545536.2:c.1041-167_1041-162del (PHEX)	XP_011543838.1:n.1041-167_1041-162del
XM_017029579.1:c.1392-167_1392-162del (PHEX)	XP_016885068.1:n.1392-167_1392-162del
XM_024452390.1:c.1857-167_1857-162del (PHEX)	XP_024308158.1:n.1857-167_1857-162del
XR_001755695.1:n.2988-167_2988-162del (PHEX)
NM_000444.6:c.2148-167_2148-162del (PHEX) MANE Select	NP_000435.3:n.2148-167_2148-162del
NM_001282754.2:c.2071-167_2071-162del (PHEX)	NP_001269683.1:n.2071-167_2071-162del