Canonical Allele Identifier: CA2419210332

Gene: PHEX PTCHD1-AS

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22223776_22223779delinsAAGG , CM000685.2:g.22223776_22223779delinsAAGG	GRCh38
NC_000023.10:g.22241893_22241896delinsAAGG , CM000685.1:g.22241893_22241896delinsAAGG	GRCh37
NC_000023.9:g.22151814_22151817delinsAAGG	NCBI36
NG_007563.2:g.195973_195976delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.453+2033_453+2036delinsAAGG (PHEX)	ENSP00000508003.1:n.453+2033_453+2036delinsAAGG
ENST00000683162.1:c.453+2033_453+2036delinsAAGG (PHEX)	ENSP00000508059.1:n.453+2033_453+2036delinsAAGG
ENST00000683289.1:c.453+2033_453+2036delinsAAGG (PHEX)	ENSP00000508195.1:n.453+2033_453+2036delinsAAGG
ENST00000683917.1:n.683+2033_683+2036delinsAAGG (PHEX)
ENST00000684356.1:c.453+2033_453+2036delinsAAGG (PHEX)	ENSP00000507619.1:n.453+2033_453+2036delinsAAGG
ENST00000684745.1:n.1573+2033_1573+2036delinsAAGG (PHEX)
ENST00000379374.5:c.1899+2033_1899+2036delinsAAGG (PHEX) MANE Select	ENSP00000368682.4:n.1899+2033_1899+2036delinsAAGG
ENST00000379374.4:c.1899+2033_1899+2036delinsAAGG (PHEX)	ENSP00000368682.4:n.1899+2033_1899+2036delinsAAGG
NM_000444.5:c.1899+2033_1899+2036delinsAAGG (PHEX)	NP_000435.3:n.1899+2033_1899+2036delinsAAGG
NM_001282754.1:c.1899+2033_1899+2036delinsAAGG (PHEX)	NP_001269683.1:n.1899+2033_1899+2036delinsAAGG
XM_011545533.1:c.1143+2033_1143+2036delinsAAGG (PHEX)	XP_011543835.1:n.1143+2033_1143+2036delinsAAGG
XM_011545534.1:c.1143+2033_1143+2036delinsAAGG (PHEX)	XP_011543836.1:n.1143+2033_1143+2036delinsAAGG
XM_011545536.1:c.792+2033_792+2036delinsAAGG (PHEX)	XP_011543838.1:n.792+2033_792+2036delinsAAGG
NR_073010.2:n.1048+3691_1048+3694delinsCCTT (PTCHD1-AS)
XM_011545536.2:c.792+2033_792+2036delinsAAGG (PHEX)	XP_011543838.1:n.792+2033_792+2036delinsAAGG
XM_017029579.1:c.1143+2033_1143+2036delinsAAGG (PHEX)	XP_016885068.1:n.1143+2033_1143+2036delinsAAGG
XM_024452390.1:c.1608+2033_1608+2036delinsAAGG (PHEX)	XP_024308158.1:n.1608+2033_1608+2036delinsAAGG
XR_001755695.1:n.2739+2033_2739+2036delinsAAGG (PHEX)
NM_000444.6:c.1899+2033_1899+2036delinsAAGG (PHEX) MANE Select	NP_000435.3:n.1899+2033_1899+2036delinsAAGG
NM_001282754.2:c.1899+2033_1899+2036delinsAAGG (PHEX)	NP_001269683.1:n.1899+2033_1899+2036delinsAAGG