Canonical Allele Identifier: CA1610232273

Gene: ELOVL2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982292_10982293delinsGA , CM000668.2:g.10982292_10982293delinsGA	GRCh38
NC_000006.11:g.10982525_10982526delinsGA , CM000668.1:g.10982525_10982526delinsGA	GRCh37
NC_000006.10:g.11090511_11090512delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1488_*1489delinsTC MANE Select	ENSP00000346693.3:n.*1488_*1489delinsTC
ENST00000354666.3:c.*1488_*1489delinsTC	ENSP00000346693.3:n.*1488_*1489delinsTC
NM_017770.3:c.*1488_*1489delinsTC	NP_060240.3:n.*1488_*1489delinsTC
XM_011514716.1:c.*1488_*1489delinsTC	XP_011513018.1:n.*1488_*1489delinsTC
XM_011514717.1:c.*1488_*1489delinsTC	XP_011513019.1:n.*1488_*1489delinsTC
XM_011514716.3:c.*1488_*1489delinsTC	XP_011513018.1:n.*1488_*1489delinsTC
NM_017770.4:c.*1488_*1489delinsTC MANE Select	NP_060240.3:n.*1488_*1489delinsTC