Canonical Allele Identifier: CA1610232300

Gene: ELOVL2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982307_10982311delinsGAGAA , CM000668.2:g.10982307_10982311delinsGAGAA	GRCh38
NC_000006.11:g.10982540_10982544delinsGAGAA , CM000668.1:g.10982540_10982544delinsGAGAA	GRCh37
NC_000006.10:g.11090526_11090530delinsGAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1470_*1474delinsTTCTC MANE Select	ENSP00000346693.3:n.*1470_*1474delinsTTCTC
ENST00000354666.3:c.*1470_*1474delinsTTCTC	ENSP00000346693.3:n.*1470_*1474delinsTTCTC
NM_017770.3:c.*1470_*1474delinsTTCTC	NP_060240.3:n.*1470_*1474delinsTTCTC
XM_011514716.1:c.*1470_*1474delinsTTCTC	XP_011513018.1:n.*1470_*1474delinsTTCTC
XM_011514717.1:c.*1470_*1474delinsTTCTC	XP_011513019.1:n.*1470_*1474delinsTTCTC
XM_011514716.3:c.*1470_*1474delinsTTCTC	XP_011513018.1:n.*1470_*1474delinsTTCTC
NM_017770.4:c.*1470_*1474delinsTTCTC MANE Select	NP_060240.3:n.*1470_*1474delinsTTCTC