Canonical Allele Identifier: CA2419211794
Gene: PHEX HGNC NCBI
PTCHD1-AS HGNC NCBI

Linked Data

dbSNP Id: rs1935542805
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22227400_22227402dup , CM000685.2:g.22227400_22227402dup GRCh38
NC_000023.10:g.22245517_22245519dup , CM000685.1:g.22245517_22245519dup GRCh37
NC_000023.9:g.22155438_22155440dup NCBI36
NG_007563.2:g.199597_199599dup

Transcript Alleles

HGVS Amino-acid change
ENST00000683162.1:c.520-107_520-105dup (PHEX) ENSP00000508059.1:n.520-107_520-105dup
ENST00000683289.1:c.520-107_520-105dup (PHEX) ENSP00000508195.1:n.520-107_520-105dup
ENST00000683917.1:n.750-107_750-105dup (PHEX)
ENST00000684356.1:c.520-107_520-105dup (PHEX) ENSP00000507619.1:n.520-107_520-105dup
ENST00000684745.1:n.1640-107_1640-105dup (PHEX)
ENST00000379374.5:c.1966-107_1966-105dup (PHEX) MANE Select ENSP00000368682.4:n.1966-107_1966-105dup
ENST00000379374.4:c.1966-107_1966-105dup (PHEX) ENSP00000368682.4:n.1966-107_1966-105dup
NM_000444.5:c.1966-107_1966-105dup (PHEX) NP_000435.3:n.1966-107_1966-105dup
NM_001282754.1:c.1966-107_1966-105dup (PHEX) NP_001269683.1:n.1966-107_1966-105dup
XM_011545533.1:c.1210-107_1210-105dup (PHEX) XP_011543835.1:n.1210-107_1210-105dup
XM_011545534.1:c.1210-107_1210-105dup (PHEX) XP_011543836.1:n.1210-107_1210-105dup
XM_011545536.1:c.859-107_859-105dup (PHEX) XP_011543838.1:n.859-107_859-105dup
XR_950534.1:n.325+71_325+73dup
NR_073010.2:n.1048+71_1048+73dup (PTCHD1-AS)
XM_011545536.2:c.859-107_859-105dup (PHEX) XP_011543838.1:n.859-107_859-105dup
XM_017029579.1:c.1210-107_1210-105dup (PHEX) XP_016885068.1:n.1210-107_1210-105dup
XM_024452390.1:c.1675-107_1675-105dup (PHEX) XP_024308158.1:n.1675-107_1675-105dup
XR_001755695.1:n.2806-107_2806-105dup (PHEX)
NM_000444.6:c.1966-107_1966-105dup (PHEX) MANE Select NP_000435.3:n.1966-107_1966-105dup
NM_001282754.2:c.1966-107_1966-105dup (PHEX) NP_001269683.1:n.1966-107_1966-105dup
Search 100 bp 5'
Search 100 bp 3'