Canonical Allele Identifier: CA603488600

Gene: PEX5

Linked Data

• dbSNP Id: rs1420899358
• gnomAD v2: 12-7362417-A-ATCAACCTCGGGGCTCACCGGTGAGAGTATC
• gnomAD v4: 12-7209821-A-ATCAACCTCGGGGCTCACCGGTGAGAGTATC
• MyVariant Identifiers: chr12:g.7362417_7362418insTCAACCTCGGGGCTCACCGGTGAGAGTATC (hg19) ; chr12:g.7209821_7209822insTCAACCTCGGGGCTCACCGGTGAGAGTATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7209823_7209852dup , CM000674.2:g.7209823_7209852dup	GRCh38
NC_000012.11:g.7362419_7362448dup , CM000674.1:g.7362419_7362448dup	GRCh37
NC_000012.10:g.7253686_7253715dup	NCBI36
NG_008448.1:g.25661_25690dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000675855.1:c.1701_1718+12dup
ENST00000266563.9:c.1590_1607+12dup
ENST00000266564.7:c.1677_1694+12dup
ENST00000412720.6:c.1764_1781+12dup
ENST00000420616.6:c.1701_1718+12dup
ENST00000434354.6:c.1746_1763+12dup
ENST00000455147.6:c.1701_1718+12dup
NM_000319.4:c.1677_1694+12dup
NM_001131023.1:c.1746_1763+12dup
NM_001131024.1:c.1590_1607+12dup
NM_001131025.1:c.1701_1718+12dup
NM_001131026.1:c.1701_1718+12dup
NM_001300789.1:c.1764_1781+12dup
XM_005253455.1:c.1653_1670+12dup
XM_011520793.1:c.1809_1826+12dup
XM_011520794.1:c.1809_1826+12dup
XM_011520795.1:c.1746_1763+12dup
XM_011520796.1:c.1746_1763+12dup
XM_011520797.1:c.1701_1718+12dup
XM_011520798.1:c.1701_1718+12dup
XM_011520799.1:c.1701_1718+12dup
XM_011520800.1:c.1701_1718+12dup
XM_011520801.1:c.1698_1715+12dup
XM_011520802.1:c.1452_1469+12dup
NM_001351124.1:c.1590_1607+12dup
NM_001351126.1:c.1590_1607+12dup
NM_001351127.1:c.1590_1607+12dup
NM_001351128.1:c.1590_1607+12dup
NM_001351130.1:c.1590_1607+12dup
NM_001351131.1:c.1701_1718+12dup
NM_001351132.1:c.1701_1718+12dup
NM_001351133.1:c.1701_1718+12dup
NM_001351134.1:c.1701_1718+12dup
NM_001351135.1:c.1698_1715+12dup
NM_001351136.1:c.1692_1709+12dup
NM_001351137.1:c.1653_1670+12dup
NM_001351138.1:c.1635_1652+12dup
NM_001351139.1:c.1566_1583+12dup
NM_001351140.1:c.1566_1583+12dup
XM_011520793.2:c.1809_1826+12dup
XM_011520802.2:c.1452_1469+12dup
XM_017019744.1:c.2145_2162+12dup
XM_017019745.1:c.2145_2162+12dup
XM_017019746.1:c.2034_2051+12dup
XM_017019747.1:c.2010_2027+12dup
XM_017019748.1:c.1746_1763+12dup
XM_017019749.1:c.1701_1718+12dup
XM_017019750.1:c.1677_1694+12dup
XR_001748833.1:n.2187_2204+12dup
NM_000319.5:c.1677_1694+12dup
NM_001131023.2:c.1746_1763+12dup
NM_001131024.2:c.1590_1607+12dup
NM_001131025.2:c.1701_1718+12dup
NM_001131026.2:c.1701_1718+12dup
NM_001300789.3:c.1701_1718+12dup
NM_001351124.3:c.1590_1607+12dup
NM_001351126.2:c.1590_1607+12dup
NM_001351127.2:c.1590_1607+12dup
NM_001351128.2:c.1590_1607+12dup
NM_001351130.3:c.1590_1607+12dup
NM_001351131.2:c.1701_1718+12dup
NM_001351132.2:c.1701_1718+12dup
NM_001351133.2:c.1701_1718+12dup
NM_001351134.2:c.1701_1718+12dup
NM_001351135.3:c.1635_1652+12dup
NM_001351136.2:c.1692_1709+12dup
NM_001351137.3:c.1590_1607+12dup
NM_001351138.2:c.1635_1652+12dup
NM_001351139.2:c.1566_1583+12dup
NM_001351140.2:c.1566_1583+12dup
NM_001374645.1:c.1590_1607+12dup
NM_001374646.1:c.1590_1607+12dup
NM_001374647.2:c.1701_1718+12dup
NM_001374648.2:c.1590_1607+12dup
NM_001374649.2:c.1566_1583+12dup