Canonical Allele Identifier: CA2645709010

Gene: CPT2

Linked Data

• gnomAD v4: 1-53211121-G-GGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211121_53211122insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC , CM000663.2:g.53211121_53211122insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	GRCh38
NC_000001.10:g.53676793_53676794insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC , CM000663.1:g.53676793_53676794insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	GRCh37
NC_000001.9:g.53449381_53449382insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	NCBI36
NG_008035.1:g.19693_19694insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC MANE Select	ENSP00000360541.3:p.Val483GlyfsTer?
ENST00000635862.1:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000490867.1:p.Val483GlyfsTer?
ENST00000635888.1:c.*1433_*1434insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000490042.1:n.*1433_*1434insGTTCAAGTGATTCTCCTGCCTCTGCCT...
ENST00000636239.1:c.*1094_*1095insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000490066.1:n.*1094_*1095insGTTCAAGTGATTCTCCTGCCTCTGCCT...
ENST00000636867.1:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000489631.1:p.Val483GlyfsTer?
ENST00000636891.1:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000490399.1:p.Val483GlyfsTer?
ENST00000636935.1:c.341-2143_341-2142insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000489757.1:n.341-2143_341-2142insGTTCAAGTGATTCTCCTGCCT...
ENST00000637252.1:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000490492.1:p.Val483GlyfsTer?
ENST00000637726.1:n.3647_3648insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC
ENST00000638135.1:c.*1094_*1095insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000489756.1:n.*1094_*1095insGTTCAAGTGATTCTCCTGCCTCTGCCT...
ENST00000371486.3:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	ENSP00000360541.3:p.Val483GlyfsTer?
NM_000098.2:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	NP_000089.1:p.Val483GlyfsTer?
XM_005270484.1:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	XP_005270541.1:p.Val483GlyfsTer?
NM_001330589.1:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	NP_001317518.1:p.Val483GlyfsTer?
NM_000098.3:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC MANE Select	NP_000089.1:p.Val483GlyfsTer?
NM_001330589.2:c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC	NP_001317518.1:p.Val483GlyfsTer?