Canonical Allele Identifier: CA2419209540

Gene: PHEX PTCHD1-AS

Linked Data

• dbSNP Id: rs1935265474

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221499_22221500del , CM000685.2:g.22221499_22221500del	GRCh38
NC_000023.10:g.22239616_22239617del , CM000685.1:g.22239616_22239617del	GRCh37
NC_000023.9:g.22149537_22149538del	NCBI36
NG_007563.2:g.193696_193697del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682888.1:c.323-114_323-113del (PHEX)	ENSP00000508003.1:n.323-114_323-113del
ENST00000683162.1:c.323-114_323-113del (PHEX)	ENSP00000508059.1:n.323-114_323-113del
ENST00000683289.1:c.323-114_323-113del (PHEX)	ENSP00000508195.1:n.323-114_323-113del
ENST00000683917.1:n.553-114_553-113del (PHEX)
ENST00000684356.1:c.323-114_323-113del (PHEX)	ENSP00000507619.1:n.323-114_323-113del
ENST00000684745.1:n.1443-114_1443-113del (PHEX)
ENST00000379374.5:c.1769-114_1769-113del (PHEX) MANE Select	ENSP00000368682.4:n.1769-114_1769-113del
ENST00000379374.4:c.1769-114_1769-113del (PHEX)	ENSP00000368682.4:n.1769-114_1769-113del
NM_000444.5:c.1769-114_1769-113del (PHEX)	NP_000435.3:n.1769-114_1769-113del
NM_001282754.1:c.1769-114_1769-113del (PHEX)	NP_001269683.1:n.1769-114_1769-113del
XM_011545533.1:c.1013-114_1013-113del (PHEX)	XP_011543835.1:n.1013-114_1013-113del
XM_011545534.1:c.1013-114_1013-113del (PHEX)	XP_011543836.1:n.1013-114_1013-113del
XM_011545536.1:c.662-114_662-113del (PHEX)	XP_011543838.1:n.662-114_662-113del
NR_073010.2:n.1048+5972_1048+5973del (PTCHD1-AS)
XM_011545536.2:c.662-114_662-113del (PHEX)	XP_011543838.1:n.662-114_662-113del
XM_017029579.1:c.1013-114_1013-113del (PHEX)	XP_016885068.1:n.1013-114_1013-113del
XM_024452390.1:c.1478-114_1478-113del (PHEX)	XP_024308158.1:n.1478-114_1478-113del
XR_001755695.1:n.2609-114_2609-113del (PHEX)
NM_000444.6:c.1769-114_1769-113del (PHEX) MANE Select	NP_000435.3:n.1769-114_1769-113del
NM_001282754.2:c.1769-114_1769-113del (PHEX)	NP_001269683.1:n.1769-114_1769-113del