Canonical Allele Identifier: CA2499226585

Gene: PHEX PTCHD1-AS

Linked Data

• ClinVar Variation Id: 1075790
• ClinVar RCV Id: RCV001389486
• dbSNP Id: rs1935273502

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22221691_22221692del , CM000685.2:g.22221691_22221692del	GRCh38
NC_000023.10:g.22239808_22239809del , CM000685.1:g.22239808_22239809del	GRCh37
NC_000023.9:g.22149729_22149730del	NCBI36
NG_007563.2:g.193888_193889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.401_402del (PHEX)	ENSP00000508003.1:p.Lys134MetfsTer4
ENST00000683162.1:c.401_402del (PHEX)	ENSP00000508059.1:p.Lys134MetfsTer4
ENST00000683289.1:c.401_402del (PHEX)	ENSP00000508195.1:p.Lys134MetfsTer4
ENST00000683917.1:n.631_632del (PHEX)
ENST00000684356.1:c.401_402del (PHEX)	ENSP00000507619.1:p.Lys134MetfsTer4
ENST00000684745.1:n.1521_1522del (PHEX)
ENST00000379374.5:c.1847_1848del (PHEX) MANE Select	ENSP00000368682.4:p.Lys616MetfsTer4
ENST00000379374.4:c.1847_1848del (PHEX)	ENSP00000368682.4:p.Lys616MetfsTer4
NM_000444.5:c.1847_1848del (PHEX)	NP_000435.3:p.Lys616MetfsTer4
NM_001282754.1:c.1847_1848del (PHEX)	NP_001269683.1:p.Lys616MetfsTer4
XM_011545533.1:c.1091_1092del (PHEX)	XP_011543835.1:p.Lys364MetfsTer4
XM_011545534.1:c.1091_1092del (PHEX)	XP_011543836.1:p.Lys364MetfsTer4
XM_011545536.1:c.740_741del (PHEX)	XP_011543838.1:p.Lys247MetfsTer4
NR_073010.2:n.1048+5780_1048+5781del (PTCHD1-AS)
XM_011545536.2:c.740_741del (PHEX)	XP_011543838.1:p.Lys247MetfsTer4
XM_017029579.1:c.1091_1092del (PHEX)	XP_016885068.1:p.Lys364MetfsTer4
XM_024452390.1:c.1556_1557del (PHEX)	XP_024308158.1:p.Lys519MetfsTer4
XR_001755695.1:n.2687_2688del (PHEX)
NM_000444.6:c.1847_1848del (PHEX) MANE Select	NP_000435.3:p.Lys616MetfsTer4
NM_001282754.2:c.1847_1848del (PHEX)	NP_001269683.1:p.Lys616MetfsTer4