Canonical Allele Identifier: CA537983

Gene: PEX10

Linked Data

• ClinVar Variation Id: 2050570
• ClinVar RCV Id: RCV002921976
• dbSNP Id: rs752180749
• ExAC: 1:2337927 C / CTAAG
• gnomAD v2: 1-2337927-C-CTAAG
• gnomAD v4: 1-2406488-C-CTAAG
• MyVariant Identifiers: chr1:g.2337927_2337928insTAAG (hg19) ; chr1:g.2406488_2406489insTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406489_2406490insAAGT , CM000663.2:g.2406489_2406490insAAGT	GRCh38
NC_000001.10:g.2337928_2337929insAAGT , CM000663.1:g.2337928_2337929insAAGT	GRCh37
NC_000001.9:g.2327788_2327789insAAGT	NCBI36
NG_008342.1:g.11083_11084insCTTA
NG_016128.1:g.19715_19716insAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.967_968insCTTA	ENSP00000288774.3:p.Ser323ThrfsTer2
ENST00000447513.7:c.907_908insCTTA MANE Select	ENSP00000407922.2:p.Ser303ThrfsTer2
ENST00000650293.1:c.861_862insCTTA
ENST00000288774.7:c.967_968insCTTA	ENSP00000288774.3:p.Ser323ThrfsTer2
ENST00000447513.6:c.907_908insCTTA	ENSP00000407922.2:p.Ser303ThrfsTer2
ENST00000507596.5:c.907_908insCTTA	ENSP00000424291.1:p.Ser303ThrfsTer2
NM_002617.3:c.907_908insCTTA	NP_002608.1:p.Ser303ThrfsTer2
NM_153818.1:c.967_968insCTTA	NP_722540.1:p.Ser323ThrfsTer2
XM_011541573.1:c.964_965insCTTA	XP_011539875.1:p.Ser322ThrfsTer2
XM_011541574.1:c.532_533insCTTA	XP_011539876.1:p.Ser178ThrfsTer2
XM_011541575.1:c.532_533insCTTA	XP_011539877.1:p.Ser178ThrfsTer2
XR_946666.1:n.1023_1024insCTTA
XR_946666.2:n.972_973insCTTA
NM_001374425.1:c.964_965insCTTA	NP_001361354.1:p.Ser322ThrfsTer2
NM_001374426.1:c.532_533insCTTA	NP_001361355.1:p.Ser178ThrfsTer2
NM_001374427.1:c.475_476insCTTA	NP_001361356.1:p.Ser159ThrfsTer2
NM_002617.4:c.907_908insCTTA MANE Select	NP_002608.1:p.Ser303ThrfsTer2
NM_153818.2:c.967_968insCTTA	NP_722540.1:p.Ser323ThrfsTer2
NR_164636.1:n.1022_1023insCTTA