Canonical Allele Identifier: CA327532428

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs201435306
• MyVariant Identifiers: chrX:g.22244437_22244438insAATA (hg19) ; chrX:g.22226320_22226321insAATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226323_22226324insAAAT , CM000685.2:g.22226323_22226324insAAAT	GRCh38
NC_000023.10:g.22244440_22244441insAAAT , CM000685.1:g.22244440_22244441insAAAT	GRCh37
NC_000023.9:g.22154361_22154362insAAAT	NCBI36
NG_007563.2:g.198520_198521insAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.454-120_454-119insAAAT (PHEX)	ENSP00000508003.1:n.454-120_454-119insAAAT
ENST00000683162.1:c.454-120_454-119insAAAT (PHEX)	ENSP00000508059.1:n.454-120_454-119insAAAT
ENST00000683289.1:c.454-120_454-119insAAAT (PHEX)	ENSP00000508195.1:n.454-120_454-119insAAAT
ENST00000683917.1:n.684-120_684-119insAAAT (PHEX)
ENST00000684356.1:c.454-120_454-119insAAAT (PHEX)	ENSP00000507619.1:n.454-120_454-119insAAAT
ENST00000684745.1:n.1574-120_1574-119insAAAT (PHEX)
ENST00000379374.5:c.1900-120_1900-119insAAAT (PHEX) MANE Select	ENSP00000368682.4:n.1900-120_1900-119insAAAT
ENST00000379374.4:c.1900-120_1900-119insAAAT (PHEX)	ENSP00000368682.4:n.1900-120_1900-119insAAAT
NM_000444.5:c.1900-120_1900-119insAAAT (PHEX)	NP_000435.3:n.1900-120_1900-119insAAAT
NM_001282754.1:c.1900-120_1900-119insAAAT (PHEX)	NP_001269683.1:n.1900-120_1900-119insAAAT
XM_011545533.1:c.1144-120_1144-119insAAAT (PHEX)	XP_011543835.1:n.1144-120_1144-119insAAAT
XM_011545534.1:c.1144-120_1144-119insAAAT (PHEX)	XP_011543836.1:n.1144-120_1144-119insAAAT
XM_011545536.1:c.793-120_793-119insAAAT (PHEX)	XP_011543838.1:n.793-120_793-119insAAAT
XR_950534.1:n.326-298_326-297insTATT
NR_073010.2:n.1048+1149_1048+1150insTATT (PTCHD1-AS)
XM_011545536.2:c.793-120_793-119insAAAT (PHEX)	XP_011543838.1:n.793-120_793-119insAAAT
XM_017029579.1:c.1144-120_1144-119insAAAT (PHEX)	XP_016885068.1:n.1144-120_1144-119insAAAT
XM_024452390.1:c.1609-120_1609-119insAAAT (PHEX)	XP_024308158.1:n.1609-120_1609-119insAAAT
XR_001755695.1:n.2740-120_2740-119insAAAT (PHEX)
NM_000444.6:c.1900-120_1900-119insAAAT (PHEX) MANE Select	NP_000435.3:n.1900-120_1900-119insAAAT
NM_001282754.2:c.1900-120_1900-119insAAAT (PHEX)	NP_001269683.1:n.1900-120_1900-119insAAAT