Canonical Allele Identifier: CA2572696511
Gene: PHEX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.22133438_22133439insGGGCTGTT , CM000685.2:g.22133438_22133439insGGGCTGTT GRCh38
NC_000023.10:g.22151555_22151556insGGGCTGTT , CM000685.1:g.22151555_22151556insGGGCTGTT GRCh37
NC_000023.9:g.22061476_22061477insGGGCTGTT NCBI36
NG_007563.2:g.105635_105636insGGGCTGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000684745.1:n.977-85_977-84insGGGCTGTT
ENST00000379374.5:c.1303-85_1303-84insGGGCTGTT MANE Select ENSP00000368682.4:n.1303-85_1303-84insGGG...
ENST00000379374.4:c.1303-85_1303-84insGGGCTGTT ENSP00000368682.4:n.1303-85_1303-84insGGG...
NM_000444.5:c.1303-85_1303-84insGGGCTGTT NP_000435.3:n.1303-85_1303-84insGGGCTGTT
NM_001282754.1:c.1303-85_1303-84insGGGCTGTT NP_001269683.1:n.1303-85_1303-84insGGGCTG...
XM_011545533.1:c.547-85_547-84insGGGCTGTT XP_011543835.1:n.547-85_547-84insGGGCTGTT...
XM_011545534.1:c.547-85_547-84insGGGCTGTT XP_011543836.1:n.547-85_547-84insGGGCTGTT...
XM_011545535.1:c.1303-85_1303-84insGGGCTGTT XP_011543837.1:n.1303-85_1303-84insGGGCTG...
XM_011545536.1:c.196-85_196-84insGGGCTGTT XP_011543838.1:n.196-85_196-84insGGGCTGTT...
XM_011545536.2:c.196-85_196-84insGGGCTGTT XP_011543838.1:n.196-85_196-84insGGGCTGTT...
XM_017029579.1:c.547-85_547-84insGGGCTGTT XP_016885068.1:n.547-85_547-84insGGGCTGTT...
XM_024452390.1:c.1012-85_1012-84insGGGCTGTT XP_024308158.1:n.1012-85_1012-84insGGGCTG...
XR_001755695.1:n.1982-85_1982-84insGGGCTGTT
NM_000444.6:c.1303-85_1303-84insGGGCTGTT MANE Select NP_000435.3:n.1303-85_1303-84insGGGCTGTT
NM_001282754.2:c.1303-85_1303-84insGGGCTGTT NP_001269683.1:n.1303-85_1303-84insGGGCTG...