Canonical Allele Identifier: CA2537815047

Gene: PHEX PTCHD1-AS

Linked Data

• gnomAD v4: X-22226601-GGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22226602_22226605del , CM000685.2:g.22226602_22226605del	GRCh38
NC_000023.10:g.22244719_22244722del , CM000685.1:g.22244719_22244722del	GRCh37
NC_000023.9:g.22154640_22154643del	NCBI36
NG_007563.2:g.198799_198802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683162.1:c.519+94_519+97del (PHEX)	ENSP00000508059.1:n.519+94_519+97del
ENST00000683289.1:c.519+94_519+97del (PHEX)	ENSP00000508195.1:n.519+94_519+97del
ENST00000683917.1:n.749+94_749+97del (PHEX)
ENST00000684356.1:c.519+94_519+97del (PHEX)	ENSP00000507619.1:n.519+94_519+97del
ENST00000684745.1:n.1639+94_1639+97del (PHEX)
ENST00000379374.5:c.1965+94_1965+97del (PHEX) MANE Select	ENSP00000368682.4:n.1965+94_1965+97del
ENST00000379374.4:c.1965+94_1965+97del (PHEX)	ENSP00000368682.4:n.1965+94_1965+97del
NM_000444.5:c.1965+94_1965+97del (PHEX)	NP_000435.3:n.1965+94_1965+97del
NM_001282754.1:c.1965+94_1965+97del (PHEX)	NP_001269683.1:n.1965+94_1965+97del
XM_011545533.1:c.1209+94_1209+97del (PHEX)	XP_011543835.1:n.1209+94_1209+97del
XM_011545534.1:c.1209+94_1209+97del (PHEX)	XP_011543836.1:n.1209+94_1209+97del
XM_011545536.1:c.858+94_858+97del (PHEX)	XP_011543838.1:n.858+94_858+97del
XR_950534.1:n.326-582_326-579del
NR_073010.2:n.1048+865_1048+868del (PTCHD1-AS)
XM_011545536.2:c.858+94_858+97del (PHEX)	XP_011543838.1:n.858+94_858+97del
XM_017029579.1:c.1209+94_1209+97del (PHEX)	XP_016885068.1:n.1209+94_1209+97del
XM_024452390.1:c.1674+94_1674+97del (PHEX)	XP_024308158.1:n.1674+94_1674+97del
XR_001755695.1:n.2805+94_2805+97del (PHEX)
NM_000444.6:c.1965+94_1965+97del (PHEX) MANE Select	NP_000435.3:n.1965+94_1965+97del
NM_001282754.2:c.1965+94_1965+97del (PHEX)	NP_001269683.1:n.1965+94_1965+97del