Canonical Allele Identifier: CA1167215075

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210206_53210230delinsTTGAACCCTGCAAAAAGTGACACTA , CM000663.2:g.53210206_53210230delinsTTGAACCCTGCAAAAAGTGACACTA	GRCh38
NC_000001.10:g.53675878_53675902delinsTTGAACCCTGCAAAAAGTGACACTA , CM000663.1:g.53675878_53675902delinsTTGAACCCTGCAAAAAGTGACACTA	GRCh37
NC_000001.9:g.53448466_53448490delinsTTGAACCCTGCAAAAAGTGACACTA	NCBI36
NG_008035.1:g.18778_18802delinsTTGAACCCTGCAAAAAGTGACACTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA MANE Select	ENSP00000360541.3:p.Leu178=
ENST00000635862.1:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000490867.1:p.Leu178=
ENST00000635888.1:c.*518_*542delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000490042.1:n.*518_*542delinsTTGAACCCTGCAAAAAGTGACACTA
ENST00000636239.1:c.*179_*203delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000490066.1:n.*179_*203delinsTTGAACCCTGCAAAAAGTGACACTA
ENST00000636867.1:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000489631.1:p.Leu178=
ENST00000636891.1:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000490399.1:p.Leu178=
ENST00000636935.1:c.341-3058_341-3034delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000489757.1:n.341-3058_341-3034delinsTTGAACCCTGCAAAAAGT...
ENST00000637252.1:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000490492.1:p.Leu178=
ENST00000637726.1:n.2732_2756delinsTTGAACCCTGCAAAAAGTGACACTA
ENST00000638135.1:c.*179_*203delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000489756.1:n.*179_*203delinsTTGAACCCTGCAAAAAGTGACACTA
ENST00000371486.3:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	ENSP00000360541.3:p.Leu178=
NM_000098.2:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	NP_000089.1:p.Leu178=
XM_005270484.1:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	XP_005270541.1:p.Leu178=
NM_001330589.1:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	NP_001317518.1:p.Leu178=
NM_000098.3:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA MANE Select	NP_000089.1:p.Leu178=
NM_001330589.2:c.532_556delinsTTGAACCCTGCAAAAAGTGACACTA	NP_001317518.1:p.Leu178=