Canonical Allele Identifier: CA1610232238

Gene: ELOVL2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982265_10982266delinsGA , CM000668.2:g.10982265_10982266delinsGA	GRCh38
NC_000006.11:g.10982498_10982499delinsGA , CM000668.1:g.10982498_10982499delinsGA	GRCh37
NC_000006.10:g.11090484_11090485delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1515_*1516delinsTC MANE Select	ENSP00000346693.3:n.*1515_*1516delinsTC
ENST00000354666.3:c.*1515_*1516delinsTC	ENSP00000346693.3:n.*1515_*1516delinsTC
NM_017770.3:c.*1515_*1516delinsTC	NP_060240.3:n.*1515_*1516delinsTC
XM_011514716.1:c.*1515_*1516delinsTC	XP_011513018.1:n.*1515_*1516delinsTC
XM_011514717.1:c.*1515_*1516delinsTC	XP_011513019.1:n.*1515_*1516delinsTC
XM_011514716.3:c.*1515_*1516delinsTC	XP_011513018.1:n.*1515_*1516delinsTC
NM_017770.4:c.*1515_*1516delinsTC MANE Select	NP_060240.3:n.*1515_*1516delinsTC