Canonical Allele Identifier: CA538120

Gene: PEX10

Linked Data

• dbSNP Id: rs772255287
• ExAC: 1:2339857 C / CTAAG
• gnomAD v2: 1-2339857-C-CTAAG
• gnomAD v3: 1-2408418-C-CTAAG
• gnomAD v4: 1-2408418-C-CTAAG
• MyVariant Identifiers: chr1:g.2339857_2339858insTAAG (hg19) ; chr1:g.2408418_2408419insTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408419_2408422dup , CM000663.2:g.2408419_2408422dup	GRCh38
NC_000001.10:g.2339858_2339861dup , CM000663.1:g.2339858_2339861dup	GRCh37
NC_000001.9:g.2329718_2329721dup	NCBI36
NG_008342.1:g.9150_9153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.600+30_600+33dup	ENSP00000288774.3:n.600+30_600+33dup
ENST00000447513.7:c.600+30_600+33dup MANE Select	ENSP00000407922.2:n.600+30_600+33dup
ENST00000650293.1:c.554+30_554+33dup
ENST00000288774.7:c.600+30_600+33dup	ENSP00000288774.3:n.600+30_600+33dup
ENST00000447513.6:c.600+30_600+33dup	ENSP00000407922.2:n.600+30_600+33dup
ENST00000507596.5:c.600+30_600+33dup	ENSP00000424291.1:n.600+30_600+33dup
ENST00000510434.1:c.596+34_596+37dup	ENSP00000423051.1:n.596+34_596+37dup
NM_002617.3:c.600+30_600+33dup	NP_002608.1:n.600+30_600+33dup
NM_153818.1:c.600+30_600+33dup	NP_722540.1:n.600+30_600+33dup
XM_011541573.1:c.600+30_600+33dup	XP_011539875.1:n.600+30_600+33dup
XM_011541574.1:c.168+30_168+33dup	XP_011539876.1:n.168+30_168+33dup
XM_011541575.1:c.168+30_168+33dup	XP_011539877.1:n.168+30_168+33dup
XM_011541576.1:c.596+34_596+37dup	XP_011539878.1:n.596+34_596+37dup
XR_946666.1:n.716+34_716+37dup
XM_011541576.2:c.596+34_596+37dup	XP_011539878.1:n.596+34_596+37dup
XR_946666.2:n.665+34_665+37dup
NM_001374425.1:c.600+30_600+33dup	NP_001361354.1:n.600+30_600+33dup
NM_001374426.1:c.168+30_168+33dup	NP_001361355.1:n.168+30_168+33dup
NM_001374427.1:c.168+30_168+33dup	NP_001361356.1:n.168+30_168+33dup
NM_002617.4:c.600+30_600+33dup MANE Select	NP_002608.1:n.600+30_600+33dup
NM_153818.2:c.600+30_600+33dup	NP_722540.1:n.600+30_600+33dup
NR_164636.1:n.715+34_715+37dup