Canonical Allele Identifier: CA2693304828

Gene: PHEX

Linked Data

• gnomAD v4: X-22096834-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096838_22096839del , CM000685.2:g.22096838_22096839del	GRCh38
NC_000023.10:g.22114956_22114957del , CM000685.1:g.22114956_22114957del	GRCh37
NC_000023.9:g.22024877_22024878del	NCBI36
NG_007563.2:g.69036_69037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1276-117_1276-116del
ENST00000684143.1:c.847-117_847-116del	ENSP00000508264.1:n.847-117_847-116del
ENST00000684745.1:n.524-117_524-116del
ENST00000379374.5:c.850-117_850-116del MANE Select	ENSP00000368682.4:n.850-117_850-116del
ENST00000379374.4:c.850-117_850-116del	ENSP00000368682.4:n.850-117_850-116del
ENST00000475778.1:n.123-117_123-116del
NM_000444.5:c.850-117_850-116del	NP_000435.3:n.850-117_850-116del
NM_001282754.1:c.850-117_850-116del	NP_001269683.1:n.850-117_850-116del
XM_011545533.1:c.94-117_94-116del	XP_011543835.1:n.94-117_94-116del
XM_011545534.1:c.94-117_94-116del	XP_011543836.1:n.94-117_94-116del
XM_011545535.1:c.850-117_850-116del	XP_011543837.1:n.850-117_850-116del
XM_017029579.1:c.94-117_94-116del	XP_016885068.1:n.94-117_94-116del
XM_024452390.1:c.559-117_559-116del	XP_024308158.1:n.559-117_559-116del
XR_001755695.1:n.1529-117_1529-116del
NM_000444.6:c.850-117_850-116del MANE Select	NP_000435.3:n.850-117_850-116del
NM_001282754.2:c.850-117_850-116del	NP_001269683.1:n.850-117_850-116del