Canonical Allele Identifier: CA22638841

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53676338_53676339insA (hg19) ; chr1:g.53210666_53210667insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210666_53210667insA , CM000663.2:g.53210666_53210667insA	GRCh38
NC_000001.10:g.53676338_53676339insA , CM000663.1:g.53676338_53676339insA	GRCh37
NC_000001.9:g.53448926_53448927insA	NCBI36
NG_008035.1:g.19238_19239insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.992_993insA MANE Select	ENSP00000360541.3:p.Ile332HisfsTer2
ENST00000635862.1:c.992_993insA	ENSP00000490867.1:p.Ile332HisfsTer2
ENST00000635888.1:c.*978_*979insA	ENSP00000490042.1:n.*978_*979insA
ENST00000636239.1:c.*639_*640insA	ENSP00000490066.1:n.*639_*640insA
ENST00000636867.1:c.992_993insA	ENSP00000489631.1:p.Ile332HisfsTer2
ENST00000636891.1:c.992_993insA	ENSP00000490399.1:p.Ile332HisfsTer2
ENST00000636935.1:c.341-2598_341-2597insA	ENSP00000489757.1:n.341-2598_341-2597insA
ENST00000637252.1:c.992_993insA	ENSP00000490492.1:p.Ile332HisfsTer2
ENST00000637726.1:n.3192_3193insA
ENST00000638135.1:c.*639_*640insA	ENSP00000489756.1:n.*639_*640insA
ENST00000371486.3:c.992_993insA	ENSP00000360541.3:p.Ile332HisfsTer2
NM_000098.2:c.992_993insA	NP_000089.1:p.Ile332HisfsTer2
XM_005270484.1:c.992_993insA	XP_005270541.1:p.Ile332HisfsTer2
NM_001330589.1:c.992_993insA	NP_001317518.1:p.Ile332HisfsTer2
NM_000098.3:c.992_993insA MANE Select	NP_000089.1:p.Ile332HisfsTer2
NM_001330589.2:c.992_993insA	NP_001317518.1:p.Ile332HisfsTer2