Canonical Allele Identifier: CA2693304815

Gene: PHEX

Linked Data

• gnomAD v4: X-22096819-TCCCCGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22096820_22096826del , CM000685.2:g.22096820_22096826del	GRCh38
NC_000023.10:g.22114938_22114944del , CM000685.1:g.22114938_22114944del	GRCh37
NC_000023.9:g.22024859_22024865del	NCBI36
NG_007563.2:g.69018_69024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.1276-135_1276-129del
ENST00000684143.1:c.847-135_847-129del	ENSP00000508264.1:n.847-135_847-129del
ENST00000684745.1:n.524-135_524-129del
ENST00000379374.5:c.850-135_850-129del MANE Select	ENSP00000368682.4:n.850-135_850-129del
ENST00000379374.4:c.850-135_850-129del	ENSP00000368682.4:n.850-135_850-129del
ENST00000475778.1:n.123-135_123-129del
NM_000444.5:c.850-135_850-129del	NP_000435.3:n.850-135_850-129del
NM_001282754.1:c.850-135_850-129del	NP_001269683.1:n.850-135_850-129del
XM_011545533.1:c.94-135_94-129del	XP_011543835.1:n.94-135_94-129del
XM_011545534.1:c.94-135_94-129del	XP_011543836.1:n.94-135_94-129del
XM_011545535.1:c.850-135_850-129del	XP_011543837.1:n.850-135_850-129del
XM_017029579.1:c.94-135_94-129del	XP_016885068.1:n.94-135_94-129del
XM_024452390.1:c.559-135_559-129del	XP_024308158.1:n.559-135_559-129del
XR_001755695.1:n.1529-135_1529-129del
NM_000444.6:c.850-135_850-129del MANE Select	NP_000435.3:n.850-135_850-129del
NM_001282754.2:c.850-135_850-129del	NP_001269683.1:n.850-135_850-129del