Canonical Allele Identifier: CA2830562646

Gene: PHEX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.22076545_22076546insGAACTC , CM000685.2:g.22076545_22076546insGAACTC	GRCh38
NC_000023.10:g.22094663_22094664insGAACTC , CM000685.1:g.22094663_22094664insGAACTC	GRCh37
NC_000023.9:g.22004584_22004585insGAACTC	NCBI36
NG_007563.2:g.48743_48744insGAACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475778.2:n.862+71_862+72insGAACTC
ENST00000683214.1:n.545-931_545-930insGAACTC
ENST00000684143.1:c.436+71_436+72insGAACTC	ENSP00000508264.1:n.436+71_436+72insGAACTC
ENST00000684745.1:n.113+71_113+72insGAACTC
ENST00000379374.5:c.436+71_436+72insGAACTC MANE Select	ENSP00000368682.4:n.436+71_436+72insGAACTC
ENST00000379374.4:c.436+71_436+72insGAACTC	ENSP00000368682.4:n.436+71_436+72insGAACTC
NM_000444.5:c.436+71_436+72insGAACTC	NP_000435.3:n.436+71_436+72insGAACTC
NM_001282754.1:c.436+71_436+72insGAACTC	NP_001269683.1:n.436+71_436+72insGAACTC
XM_011545535.1:c.436+71_436+72insGAACTC	XP_011543837.1:n.436+71_436+72insGAACTC
XM_017029579.1:c.-93-13884_-93-13883insGAACTC	XP_016885068.1:n.-93-13884_-93-13883insGAACTC
XM_024452390.1:c.145+71_145+72insGAACTC	XP_024308158.1:n.145+71_145+72insGAACTC
XR_001755695.1:n.1115+71_1115+72insGAACTC
NM_000444.6:c.436+71_436+72insGAACTC MANE Select	NP_000435.3:n.436+71_436+72insGAACTC
NM_001282754.2:c.436+71_436+72insGAACTC	NP_001269683.1:n.436+71_436+72insGAACTC