Canonical Allele Identifier: CA2695231843

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22247929_22247933dup , CM000685.2:g.22247929_22247933dup	GRCh38
NC_000023.10:g.22266046_22266050dup , CM000685.1:g.22266046_22266050dup	GRCh37
NC_000023.9:g.22175967_22175971dup	NCBI36
NG_007563.2:g.220126_220130dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.*164_*168dup (PHEX)	ENSP00000508059.1:n.*164_*168dup
ENST00000683289.1:c.624+20318_624+20322dup (PHEX)	ENSP00000508195.1:n.624+20318_624+20322dup
ENST00000683917.1:n.1010_1014dup (PHEX)
ENST00000684356.1:c.780_784dup (PHEX)	ENSP00000507619.1:p.Asp262AlafsTer29
ENST00000684745.1:n.1900_1904dup (PHEX)
ENST00000379374.5:c.2226_2230dup (PHEX) MANE Select	ENSP00000368682.4:p.Asp744AlafsTer29
ENST00000379374.4:c.2226_2230dup (PHEX)	ENSP00000368682.4:p.Asp744AlafsTer29
NM_000444.5:c.2226_2230dup (PHEX)	NP_000435.3:p.Asp744AlafsTer29
NM_001282754.1:c.*61_*65dup (PHEX)	NP_001269683.1:n.*61_*65dup
XM_011545533.1:c.1470_1474dup (PHEX)	XP_011543835.1:p.Asp492AlafsTer29
XM_011545534.1:c.1470_1474dup (PHEX)	XP_011543836.1:p.Asp492AlafsTer29
XM_011545536.1:c.1119_1123dup (PHEX)	XP_011543838.1:p.Asp375AlafsTer29
XR_950533.1:n.140+6008_140+6012dup
XR_950534.1:n.127+6008_127+6012dup
NR_073010.2:n.850+6008_850+6012dup (PTCHD1-AS)
XM_011545536.2:c.1119_1123dup (PHEX)	XP_011543838.1:p.Asp375AlafsTer29
XM_017029579.1:c.1470_1474dup (PHEX)	XP_016885068.1:p.Asp492AlafsTer29
XM_024452390.1:c.1935_1939dup (PHEX)	XP_024308158.1:p.Asp647AlafsTer29
XR_001755695.1:n.3066_3070dup (PHEX)
NM_000444.6:c.2226_2230dup (PHEX) MANE Select	NP_000435.3:p.Asp744AlafsTer29
NM_001282754.2:c.*61_*65dup (PHEX)	NP_001269683.1:n.*61_*65dup