Canonical Allele Identifier: CA1149570828

Gene: PEX10

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406514_2406517delinsCCAG , CM000663.2:g.2406514_2406517delinsCCAG	GRCh38
NC_000001.10:g.2337953_2337956delinsCCAG , CM000663.1:g.2337953_2337956delinsCCAG	GRCh37
NC_000001.9:g.2327813_2327816delinsCCAG	NCBI36
NG_008342.1:g.11055_11058delinsCTGG
NG_016128.1:g.19740_19743delinsCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.939_942delinsCTGG	ENSP00000288774.3:p.Cys313=
ENST00000447513.7:c.879_882delinsCTGG MANE Select	ENSP00000407922.2:p.Cys293=
ENST00000650293.1:c.833_836delinsCTGG
ENST00000288774.7:c.939_942delinsCTGG	ENSP00000288774.3:p.Cys313=
ENST00000447513.6:c.879_882delinsCTGG	ENSP00000407922.2:p.Cys293=
ENST00000507596.5:c.879_882delinsCTGG	ENSP00000424291.1:p.Cys293=
NM_002617.3:c.879_882delinsCTGG	NP_002608.1:p.Cys293=
NM_153818.1:c.939_942delinsCTGG	NP_722540.1:p.Cys313=
XM_011541573.1:c.936_939delinsCTGG	XP_011539875.1:p.Cys312=
XM_011541574.1:c.504_507delinsCTGG	XP_011539876.1:p.Cys168=
XM_011541575.1:c.504_507delinsCTGG	XP_011539877.1:p.Cys168=
XR_946666.1:n.995_998delinsCTGG
XR_946666.2:n.944_947delinsCTGG
NM_001374425.1:c.936_939delinsCTGG	NP_001361354.1:p.Cys312=
NM_001374426.1:c.504_507delinsCTGG	NP_001361355.1:p.Cys168=
NM_001374427.1:c.447_450delinsCTGG	NP_001361356.1:p.Cys149=
NM_002617.4:c.879_882delinsCTGG MANE Select	NP_002608.1:p.Cys293=
NM_153818.2:c.939_942delinsCTGG	NP_722540.1:p.Cys313=
NR_164636.1:n.994_997delinsCTGG