Canonical Allele Identifier: CA1610232114
Gene: ELOVL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982127_10982128delinsGC , CM000668.2:g.10982127_10982128delinsGC GRCh38
NC_000006.11:g.10982360_10982361delinsGC , CM000668.1:g.10982360_10982361delinsGC GRCh37
NC_000006.10:g.11090346_11090347delinsGC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000354666.4:c.*1653_*1654delinsGC MANE Select ENSP00000346693.3:n.*1653_*1654delinsGC
ENST00000354666.3:c.*1653_*1654delinsGC ENSP00000346693.3:n.*1653_*1654delinsGC
NM_017770.3:c.*1653_*1654delinsGC NP_060240.3:n.*1653_*1654delinsGC
XM_011514716.1:c.*1653_*1654delinsGC XP_011513018.1:n.*1653_*1654delinsGC
XM_011514717.1:c.*1653_*1654delinsGC XP_011513019.1:n.*1653_*1654delinsGC
XM_011514716.3:c.*1653_*1654delinsGC XP_011513018.1:n.*1653_*1654delinsGC
NM_017770.4:c.*1653_*1654delinsGC MANE Select NP_060240.3:n.*1653_*1654delinsGC
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