Canonical Allele Identifier: CA736875878
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1229003804
gnomAD v3: 1-53196713-CGGGCGGGGCCTACTAGT-C
gnomAD v4: 1-53196713-CGGGCGGGGCCTACTAGT-C
MyVariant Identifiers: chr1:g.53662386_53662402del (hg19) chr1:g.53196714_53196730del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196725_53196741del , CM000663.2:g.53196725_53196741del GRCh38
NC_000001.10:g.53662397_53662413del , CM000663.1:g.53662397_53662413del GRCh37
NC_000001.9:g.53434985_53435001del NCBI36
NG_008035.1:g.5297_5313del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-219_-203del ENSP00000360541.3:n.-219_-203del
NM_000098.2:c.-219_-203del NP_000089.1:n.-219_-203del
NM_001330589.1:c.-219_-203del NP_001317518.1:n.-219_-203del
Search 100 bp 5'
Search 100 bp 3'