Canonical Allele Identifier: CA873922619

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1310241633
• gnomAD v3: X-22247628-CGAAGAGTAATAGGGGCATGTGCTTGGCATTCA-C
• gnomAD v4: X-22247628-CGAAGAGTAATAGGGGCATGTGCTTGGCATTCA-C
• MyVariant Identifiers: chrX:g.22265746_22265777del (hg19) ; chrX:g.22247629_22247660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247630_22247661del , CM000685.2:g.22247630_22247661del	GRCh38
NC_000023.10:g.22265747_22265778del , CM000685.1:g.22265747_22265778del	GRCh37
NC_000023.9:g.22175668_22175699del	NCBI36
NG_007563.2:g.219827_219858del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*86-221_*86-190del (PHEX)	ENSP00000508059.1:n.*86-221_*86-190del
ENST00000683289.1:c.624+20019_624+20050del (PHEX)	ENSP00000508195.1:n.624+20019_624+20050del
ENST00000683917.1:n.932-221_932-190del (PHEX)
ENST00000684356.1:c.702-221_702-190del (PHEX)	ENSP00000507619.1:n.702-221_702-190del
ENST00000684745.1:n.1822-221_1822-190del (PHEX)
ENST00000379374.5:c.2148-221_2148-190del (PHEX) MANE Select	ENSP00000368682.4:n.2148-221_2148-190del
ENST00000379374.4:c.2148-221_2148-190del (PHEX)	ENSP00000368682.4:n.2148-221_2148-190del
NM_000444.5:c.2148-221_2148-190del (PHEX)	NP_000435.3:n.2148-221_2148-190del
NM_001282754.1:c.2071-221_2071-190del (PHEX)	NP_001269683.1:n.2071-221_2071-190del
XM_011545533.1:c.1392-221_1392-190del (PHEX)	XP_011543835.1:n.1392-221_1392-190del
XM_011545534.1:c.1392-221_1392-190del (PHEX)	XP_011543836.1:n.1392-221_1392-190del
XM_011545536.1:c.1041-221_1041-190del (PHEX)	XP_011543838.1:n.1041-221_1041-190del
XR_950533.1:n.140+6279_140+6310del
XR_950534.1:n.127+6279_127+6310del
NR_073010.2:n.850+6279_850+6310del (PTCHD1-AS)
XM_011545536.2:c.1041-221_1041-190del (PHEX)	XP_011543838.1:n.1041-221_1041-190del
XM_017029579.1:c.1392-221_1392-190del (PHEX)	XP_016885068.1:n.1392-221_1392-190del
XM_024452390.1:c.1857-221_1857-190del (PHEX)	XP_024308158.1:n.1857-221_1857-190del
XR_001755695.1:n.2988-221_2988-190del (PHEX)
NM_000444.6:c.2148-221_2148-190del (PHEX) MANE Select	NP_000435.3:n.2148-221_2148-190del
NM_001282754.2:c.2071-221_2071-190del (PHEX)	NP_001269683.1:n.2071-221_2071-190del