Canonical Allele Identifier: CA2586966680

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210643_53210644del , CM000663.2:g.53210643_53210644del	GRCh38
NC_000001.10:g.53676315_53676316del , CM000663.1:g.53676315_53676316del	GRCh37
NC_000001.9:g.53448903_53448904del	NCBI36
NG_008035.1:g.19215_19216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.969_970del MANE Select	ENSP00000360541.3:p.Phe323LeufsTer6
ENST00000635862.1:c.969_970del	ENSP00000490867.1:p.Phe323LeufsTer6
ENST00000635888.1:c.*955_*956del	ENSP00000490042.1:n.*955_*956del
ENST00000636239.1:c.*616_*617del	ENSP00000490066.1:n.*616_*617del
ENST00000636867.1:c.969_970del	ENSP00000489631.1:p.Phe323LeufsTer6
ENST00000636891.1:c.969_970del	ENSP00000490399.1:p.Phe323LeufsTer6
ENST00000636935.1:c.341-2621_341-2620del	ENSP00000489757.1:n.341-2621_341-2620del
ENST00000637252.1:c.969_970del	ENSP00000490492.1:p.Phe323LeufsTer6
ENST00000637726.1:n.3169_3170del
ENST00000638135.1:c.*616_*617del	ENSP00000489756.1:n.*616_*617del
ENST00000371486.3:c.969_970del	ENSP00000360541.3:p.Phe323LeufsTer6
NM_000098.2:c.969_970del	NP_000089.1:p.Phe323LeufsTer6
XM_005270484.1:c.969_970del	XP_005270541.1:p.Phe323LeufsTer6
NM_001330589.1:c.969_970del	NP_001317518.1:p.Phe323LeufsTer6
NM_000098.3:c.969_970del MANE Select	NP_000089.1:p.Phe323LeufsTer6
NM_001330589.2:c.969_970del	NP_001317518.1:p.Phe323LeufsTer6