Canonical Allele Identifier: CA10368374

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs60807057
• ExAC: X:22244529 T / TTTA
• gnomAD v2: X-22244529-T-TTTA
• gnomAD v3: X-22226412-T-TTTA
• gnomAD v4: X-22226412-T-TTTA
• MyVariant Identifiers: chrX:g.22244529_22244530insTTA (hg19) ; chrX:g.22226412_22226413insTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226414_22226415insATT , CM000685.2:g.22226414_22226415insATT	GRCh38
NC_000023.10:g.22244531_22244532insATT , CM000685.1:g.22244531_22244532insATT	GRCh37
NC_000023.9:g.22154452_22154453insATT	NCBI36
NG_007563.2:g.198611_198612insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.454-29_454-28insATT (PHEX)	ENSP00000508003.1:n.454-29_454-28insATT
ENST00000683162.1:c.454-29_454-28insATT (PHEX)	ENSP00000508059.1:n.454-29_454-28insATT
ENST00000683289.1:c.454-29_454-28insATT (PHEX)	ENSP00000508195.1:n.454-29_454-28insATT
ENST00000683917.1:n.684-29_684-28insATT (PHEX)
ENST00000684356.1:c.454-29_454-28insATT (PHEX)	ENSP00000507619.1:n.454-29_454-28insATT
ENST00000684745.1:n.1574-29_1574-28insATT (PHEX)
ENST00000379374.5:c.1900-29_1900-28insATT (PHEX) MANE Select	ENSP00000368682.4:n.1900-29_1900-28insATT
ENST00000379374.4:c.1900-29_1900-28insATT (PHEX)	ENSP00000368682.4:n.1900-29_1900-28insATT
NM_000444.5:c.1900-29_1900-28insATT (PHEX)	NP_000435.3:n.1900-29_1900-28insATT
NM_001282754.1:c.1900-29_1900-28insATT (PHEX)	NP_001269683.1:n.1900-29_1900-28insATT
XM_011545533.1:c.1144-29_1144-28insATT (PHEX)	XP_011543835.1:n.1144-29_1144-28insATT
XM_011545534.1:c.1144-29_1144-28insATT (PHEX)	XP_011543836.1:n.1144-29_1144-28insATT
XM_011545536.1:c.793-29_793-28insATT (PHEX)	XP_011543838.1:n.793-29_793-28insATT
XR_950534.1:n.326-390_326-389insTAA
NR_073010.2:n.1048+1057_1048+1058insTAA (PTCHD1-AS)
XM_011545536.2:c.793-29_793-28insATT (PHEX)	XP_011543838.1:n.793-29_793-28insATT
XM_017029579.1:c.1144-29_1144-28insATT (PHEX)	XP_016885068.1:n.1144-29_1144-28insATT
XM_024452390.1:c.1609-29_1609-28insATT (PHEX)	XP_024308158.1:n.1609-29_1609-28insATT
XR_001755695.1:n.2740-29_2740-28insATT (PHEX)
NM_000444.6:c.1900-29_1900-28insATT (PHEX) MANE Select	NP_000435.3:n.1900-29_1900-28insATT
NM_001282754.2:c.1900-29_1900-28insATT (PHEX)	NP_001269683.1:n.1900-29_1900-28insATT