Canonical Allele Identifier: CA873922605

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1483826949
• gnomAD v3: X-22247572-GTTAGAAAAACT-G
• gnomAD v4: X-22247572-GTTAGAAAAACT-G
• MyVariant Identifiers: chrX:g.22265690_22265700del (hg19) ; chrX:g.22247573_22247583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247573_22247583del , CM000685.2:g.22247573_22247583del	GRCh38
NC_000023.10:g.22265690_22265700del , CM000685.1:g.22265690_22265700del	GRCh37
NC_000023.9:g.22175611_22175621del	NCBI36
NG_007563.2:g.219770_219780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*86-278_*86-268del (PHEX)	ENSP00000508059.1:n.*86-278_*86-268del
ENST00000683289.1:c.624+19962_624+19972del (PHEX)	ENSP00000508195.1:n.624+19962_624+19972del
ENST00000683917.1:n.932-278_932-268del (PHEX)
ENST00000684356.1:c.702-278_702-268del (PHEX)	ENSP00000507619.1:n.702-278_702-268del
ENST00000684745.1:n.1822-278_1822-268del (PHEX)
ENST00000379374.5:c.2148-278_2148-268del (PHEX) MANE Select	ENSP00000368682.4:n.2148-278_2148-268del
ENST00000379374.4:c.2148-278_2148-268del (PHEX)	ENSP00000368682.4:n.2148-278_2148-268del
NM_000444.5:c.2148-278_2148-268del (PHEX)	NP_000435.3:n.2148-278_2148-268del
NM_001282754.1:c.2071-278_2071-268del (PHEX)	NP_001269683.1:n.2071-278_2071-268del
XM_011545533.1:c.1392-278_1392-268del (PHEX)	XP_011543835.1:n.1392-278_1392-268del
XM_011545534.1:c.1392-278_1392-268del (PHEX)	XP_011543836.1:n.1392-278_1392-268del
XM_011545536.1:c.1041-278_1041-268del (PHEX)	XP_011543838.1:n.1041-278_1041-268del
XR_950533.1:n.140+6356_140+6366del
XR_950534.1:n.127+6356_127+6366del
NR_073010.2:n.850+6356_850+6366del (PTCHD1-AS)
XM_011545536.2:c.1041-278_1041-268del (PHEX)	XP_011543838.1:n.1041-278_1041-268del
XM_017029579.1:c.1392-278_1392-268del (PHEX)	XP_016885068.1:n.1392-278_1392-268del
XM_024452390.1:c.1857-278_1857-268del (PHEX)	XP_024308158.1:n.1857-278_1857-268del
XR_001755695.1:n.2988-278_2988-268del (PHEX)
NM_000444.6:c.2148-278_2148-268del (PHEX) MANE Select	NP_000435.3:n.2148-278_2148-268del
NM_001282754.2:c.2071-278_2071-268del (PHEX)	NP_001269683.1:n.2071-278_2071-268del