Canonical Allele Identifier: CA1610232077
Gene: ELOVL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982065_10982068delinsAAAG , CM000668.2:g.10982065_10982068delinsAAAG GRCh38
NC_000006.11:g.10982298_10982301delinsAAAG , CM000668.1:g.10982298_10982301delinsAAAG GRCh37
NC_000006.10:g.11090284_11090287delinsAAAG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1713_*1716delinsCTTT MANE Select ENSP00000346693.3:n.*1713_*1716delinsCTTT
ENST00000354666.3:c.*1713_*1716delinsCTTT ENSP00000346693.3:n.*1713_*1716delinsCTTT
NM_017770.3:c.*1713_*1716delinsCTTT NP_060240.3:n.*1713_*1716delinsCTTT
XM_011514716.1:c.*1713_*1716delinsCTTT XP_011513018.1:n.*1713_*1716delinsCTTT
XM_011514717.1:c.*1713_*1716delinsCTTT XP_011513019.1:n.*1713_*1716delinsCTTT
XM_011514716.3:c.*1713_*1716delinsCTTT XP_011513018.1:n.*1713_*1716delinsCTTT
NM_017770.4:c.*1713_*1716delinsCTTT MANE Select NP_060240.3:n.*1713_*1716delinsCTTT