Canonical Allele Identifier: CA2645706384

Gene: CPT2

Linked Data

• gnomAD v4: 1-53196710-TTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196717_53196780del , CM000663.2:g.53196717_53196780del	GRCh38
NC_000001.10:g.53662389_53662452del , CM000663.1:g.53662389_53662452del	GRCh37
NC_000001.9:g.53434977_53435040del	NCBI36
NG_008035.1:g.5289_5352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-227_-164del	ENSP00000360541.3:n.-227_-164del
NM_000098.2:c.-227_-164del	NP_000089.1:n.-227_-164del
NM_001330589.1:c.-227_-164del	NP_001317518.1:n.-227_-164del