Canonical Allele Identifier: CA521014103

Gene: PEX10

Linked Data

• ClinVar Variation Id: 551349
• ClinVar RCV Id: RCV000666386
• dbSNP Id: rs1438047457
• gnomAD v2: 1-2337953-CCAG-C
• gnomAD v4: 1-2406514-CCAG-C
• MyVariant Identifiers: chr1:g.2337954_2337956del (hg19) ; chr1:g.2406515_2406517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406518_2406520del , CM000663.2:g.2406518_2406520del	GRCh38
NC_000001.10:g.2337957_2337959del , CM000663.1:g.2337957_2337959del	GRCh37
NC_000001.9:g.2327817_2327819del	NCBI36
NG_008342.1:g.11055_11057del
NG_016128.1:g.19744_19746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.939_941del	ENSP00000288774.3:p.Cys313del
ENST00000447513.7:c.879_881del MANE Select	ENSP00000407922.2:p.Cys293del
ENST00000650293.1:c.833_835del
ENST00000288774.7:c.939_941del	ENSP00000288774.3:p.Cys313del
ENST00000447513.6:c.879_881del	ENSP00000407922.2:p.Cys293del
ENST00000507596.5:c.879_881del	ENSP00000424291.1:p.Cys293del
NM_002617.3:c.879_881del	NP_002608.1:p.Cys293del
NM_153818.1:c.939_941del	NP_722540.1:p.Cys313del
XM_011541573.1:c.936_938del	XP_011539875.1:p.Cys312del
XM_011541574.1:c.504_506del	XP_011539876.1:p.Cys168del
XM_011541575.1:c.504_506del	XP_011539877.1:p.Cys168del
XR_946666.1:n.995_997del
XR_946666.2:n.944_946del
NM_001374425.1:c.936_938del	NP_001361354.1:p.Cys312del
NM_001374426.1:c.504_506del	NP_001361355.1:p.Cys168del
NM_001374427.1:c.447_449del	NP_001361356.1:p.Cys149del
NM_002617.4:c.879_881del MANE Select	NP_002608.1:p.Cys293del
NM_153818.2:c.939_941del	NP_722540.1:p.Cys313del
NR_164636.1:n.994_996del