Canonical Allele Identifier: CA2695231798

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226442_22226452dup , CM000685.2:g.22226442_22226452dup	GRCh38
NC_000023.10:g.22244559_22244569dup , CM000685.1:g.22244559_22244569dup	GRCh37
NC_000023.9:g.22154480_22154490dup	NCBI36
NG_007563.2:g.198639_198649dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.454-1_463dup (PHEX)
ENST00000683162.1:c.454-1_463dup (PHEX)
ENST00000683289.1:c.454-1_463dup (PHEX)
ENST00000683917.1:n.684-1_693dup (PHEX)
ENST00000684356.1:c.454-1_463dup (PHEX)
ENST00000684745.1:n.1574-1_1583dup (PHEX)
ENST00000379374.5:c.1900-1_1909dup (PHEX)
ENST00000379374.4:c.1900-1_1909dup (PHEX)
NM_000444.5:c.1900-1_1909dup (PHEX)
NM_001282754.1:c.1900-1_1909dup (PHEX)
XM_011545533.1:c.1144-1_1153dup (PHEX)
XM_011545534.1:c.1144-1_1153dup (PHEX)
XM_011545536.1:c.793-1_802dup (PHEX)
XR_950534.1:n.326-428_326-418dup
NR_073010.2:n.1048+1019_1048+1029dup (PTCHD1-AS)
XM_011545536.2:c.793-1_802dup (PHEX)
XM_017029579.1:c.1144-1_1153dup (PHEX)
XM_024452390.1:c.1609-1_1618dup (PHEX)
XR_001755695.1:n.2740-1_2749dup (PHEX)
NM_000444.6:c.1900-1_1909dup (PHEX)
NM_001282754.2:c.1900-1_1909dup (PHEX)