Canonical Allele Identifier: CA521014117

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2788147
• ClinVar RCV Id: RCV003649544
• dbSNP Id: rs1557908648
• gnomAD v2: 1-2338069-TG-T
• MyVariant Identifiers: chr1:g.2338070del (hg19) ; chr1:g.2406631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406634del , CM000663.2:g.2406634del	GRCh38
NC_000001.10:g.2338073del , CM000663.1:g.2338073del	GRCh37
NC_000001.9:g.2327933del	NCBI36
NG_008342.1:g.10941del
NG_016128.1:g.19860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.837-12del	ENSP00000288774.3:n.837-12del
ENST00000447513.7:c.777-12del MANE Select	ENSP00000407922.2:n.777-12del
ENST00000650293.1:c.731-12del
ENST00000288774.7:c.837-12del	ENSP00000288774.3:n.837-12del
ENST00000447513.6:c.777-12del	ENSP00000407922.2:n.777-12del
ENST00000507596.5:c.777-12del	ENSP00000424291.1:n.777-12del
ENST00000510434.1:c.*143-12del	ENSP00000423051.1:n.*143-12del
NM_002617.3:c.777-12del	NP_002608.1:n.777-12del
NM_153818.1:c.837-12del	NP_722540.1:n.837-12del
XM_011541573.1:c.834-12del	XP_011539875.1:n.834-12del
XM_011541574.1:c.402-12del	XP_011539876.1:n.402-12del
XM_011541575.1:c.402-12del	XP_011539877.1:n.402-12del
XR_946666.1:n.893-12del
XR_946666.2:n.842-12del
NM_001374425.1:c.834-12del	NP_001361354.1:n.834-12del
NM_001374426.1:c.402-12del	NP_001361355.1:n.402-12del
NM_001374427.1:c.345-12del	NP_001361356.1:n.345-12del
NM_002617.4:c.777-12del MANE Select	NP_002608.1:n.777-12del
NM_153818.2:c.837-12del	NP_722540.1:n.837-12del
NR_164636.1:n.892-12del