Canonical Allele Identifier: CA645509385

Gene: PHEX

Linked Data

• ClinVar Variation Id: 438543
• ClinVar RCV Id: RCV000505433
• dbSNP Id: rs1556071123
• MyVariant Identifiers: chrX:g.22196475_22196476insT (hg19) ; chrX:g.22178358_22178359insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22178358_22178359insT , CM000685.2:g.22178358_22178359insT	GRCh38
NC_000023.10:g.22196475_22196476insT , CM000685.1:g.22196475_22196476insT	GRCh37
NC_000023.9:g.22106396_22106397insT	NCBI36
NG_007563.2:g.150555_150556insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682888.1:c.122_123insT	ENSP00000508003.1:p.Lys41AsnfsTer?
ENST00000683162.1:c.122_123insT	ENSP00000508059.1:p.Lys41AsnfsTer?
ENST00000683289.1:c.122_123insT	ENSP00000508195.1:p.Lys41AsnfsTer?
ENST00000683917.1:n.352_353insT
ENST00000684356.1:c.122_123insT	ENSP00000507619.1:p.Lys41AsnfsTer?
ENST00000684745.1:n.1242_1243insT
ENST00000379374.5:c.1568_1569insT MANE Select	ENSP00000368682.4:p.Lys523AsnfsTer?
ENST00000379374.4:c.1568_1569insT	ENSP00000368682.4:p.Lys523AsnfsTer?
NM_000444.5:c.1568_1569insT	NP_000435.3:p.Lys523AsnfsTer?
NM_001282754.1:c.1568_1569insT	NP_001269683.1:p.Lys523AsnfsTer?
XM_011545533.1:c.812_813insT	XP_011543835.1:p.Lys271AsnfsTer?
XM_011545534.1:c.812_813insT	XP_011543836.1:p.Lys271AsnfsTer?
XM_011545536.1:c.461_462insT	XP_011543838.1:p.Lys154AsnfsTer?
XM_011545536.2:c.461_462insT	XP_011543838.1:p.Lys154AsnfsTer?
XM_017029579.1:c.812_813insT	XP_016885068.1:p.Lys271AsnfsTer?
XM_024452390.1:c.1277_1278insT	XP_024308158.1:p.Lys426AsnfsTer?
XR_001755695.1:n.2408_2409insT
NM_000444.6:c.1568_1569insT MANE Select	NP_000435.3:p.Lys523AsnfsTer?
NM_001282754.2:c.1568_1569insT	NP_001269683.1:p.Lys523AsnfsTer?