Canonical Allele Identifier: CA916082033

Gene: CPT2

Linked Data

• ClinVar Variation Id: 840887
• ClinVar RCV Id: RCV001042996
• dbSNP Id: rs1645424505

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211118_53211683del , CM000663.2:g.53211118_53211683del	GRCh38
NC_000001.10:g.53676790_53677355del , CM000663.1:g.53676790_53677355del	GRCh37
NC_000001.9:g.53449378_53449943del	NCBI36
NG_008035.1:g.19690_20255del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1444_1645+364del
ENST00000635862.1:c.1444_1576+433del
ENST00000635888.1:c.*1430_*1631+364del
ENST00000636239.1:c.*1091_*1292+364del
ENST00000636867.1:c.1444_1576+433del
ENST00000636891.1:c.1444_1695+314del
ENST00000636935.1:c.341-2146_341-1581del	ENSP00000489757.1:n.341-2146_341-1581del
ENST00000637252.1:c.1444_1645+364del
ENST00000638135.1:c.*1091_*1292+364del
ENST00000371486.3:c.1444_1645+364del
NM_000098.2:c.1444_1645+364del
XM_005270484.1:c.1444_1576+433del
NM_001330589.1:c.1444_1576+433del
NM_000098.3:c.1444_1645+364del
NM_001330589.2:c.1444_1576+433del