Canonical Allele Identifier: CA913073088
Gene: PEX10 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.2337977dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.2406538dup , CM000663.2:g.2406538dup GRCh38
NC_000001.10:g.2337977dup , CM000663.1:g.2337977dup GRCh37
NC_000001.9:g.2327837dup NCBI36
NG_008342.1:g.11034dup
NG_016128.1:g.19764dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000288774.8:c.918dup ENSP00000288774.3:p.Pro307AlafsTer?
ENST00000447513.7:c.858dup MANE Select ENSP00000407922.2:p.Pro287AlafsTer?
ENST00000650293.1:c.812dup
ENST00000288774.7:c.918dup ENSP00000288774.3:p.Pro307AlafsTer?
ENST00000447513.6:c.858dup ENSP00000407922.2:p.Pro287AlafsTer?
ENST00000507596.5:c.858dup ENSP00000424291.1:p.Pro287AlafsTer?
ENST00000510434.1:c.*224dup ENSP00000423051.1:n.*224dup
NM_002617.3:c.858dup NP_002608.1:p.Pro287AlafsTer?
NM_153818.1:c.918dup NP_722540.1:p.Pro307AlafsTer?
XM_011541573.1:c.915dup XP_011539875.1:p.Pro306AlafsTer?
XM_011541574.1:c.483dup XP_011539876.1:p.Pro162AlafsTer?
XM_011541575.1:c.483dup XP_011539877.1:p.Pro162AlafsTer?
XR_946666.1:n.974dup
XR_946666.2:n.923dup
NM_001374425.1:c.915dup NP_001361354.1:p.Pro306AlafsTer?
NM_001374426.1:c.483dup NP_001361355.1:p.Pro162AlafsTer?
NM_001374427.1:c.426dup NP_001361356.1:p.Pro143AlafsTer?
NM_002617.4:c.858dup MANE Select NP_002608.1:p.Pro287AlafsTer?
NM_153818.2:c.918dup NP_722540.1:p.Pro307AlafsTer?
NR_164636.1:n.973dup