Canonical Allele Identifier: CA640414274

Gene: PHEX

Linked Data

• dbSNP Id: rs1475028160
• gnomAD v2: X-22094393-TTGTC-T
• gnomAD v3: X-22076275-TTGTC-T
• gnomAD v4: X-22076275-TTGTC-T
• MyVariant Identifiers: chrX:g.22094394_22094397del (hg19) ; chrX:g.22076276_22076279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076281_22076284del , CM000685.2:g.22076281_22076284del	GRCh38
NC_000023.10:g.22094399_22094402del , CM000685.1:g.22094399_22094402del	GRCh37
NC_000023.9:g.22004320_22004323del	NCBI36
NG_007563.2:g.48479_48482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.776-107_776-104del
ENST00000683214.1:n.545-1195_545-1192del
ENST00000684143.1:c.350-107_350-104del	ENSP00000508264.1:n.350-107_350-104del
ENST00000684745.1:n.27-107_27-104del
ENST00000379374.5:c.350-107_350-104del MANE Select	ENSP00000368682.4:n.350-107_350-104del
ENST00000379374.4:c.350-107_350-104del	ENSP00000368682.4:n.350-107_350-104del
NM_000444.5:c.350-107_350-104del	NP_000435.3:n.350-107_350-104del
NM_001282754.1:c.350-107_350-104del	NP_001269683.1:n.350-107_350-104del
XM_011545535.1:c.350-107_350-104del	XP_011543837.1:n.350-107_350-104del
XM_017029579.1:c.-93-14148_-93-14145del	XP_016885068.1:n.-93-14148_-93-14145del
XM_024452390.1:c.59-107_59-104del	XP_024308158.1:n.59-107_59-104del
XR_001755695.1:n.1029-107_1029-104del
NM_000444.6:c.350-107_350-104del MANE Select	NP_000435.3:n.350-107_350-104del
NM_001282754.2:c.350-107_350-104del	NP_001269683.1:n.350-107_350-104del