Canonical Allele Identifier: CA1610232254

Gene: ELOVL2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982285_10982286delinsCA , CM000668.2:g.10982285_10982286delinsCA	GRCh38
NC_000006.11:g.10982518_10982519delinsCA , CM000668.1:g.10982518_10982519delinsCA	GRCh37
NC_000006.10:g.11090504_11090505delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1495_*1496delinsTG MANE Select	ENSP00000346693.3:n.*1495_*1496delinsTG
ENST00000354666.3:c.*1495_*1496delinsTG	ENSP00000346693.3:n.*1495_*1496delinsTG
NM_017770.3:c.*1495_*1496delinsTG	NP_060240.3:n.*1495_*1496delinsTG
XM_011514716.1:c.*1495_*1496delinsTG	XP_011513018.1:n.*1495_*1496delinsTG
XM_011514717.1:c.*1495_*1496delinsTG	XP_011513019.1:n.*1495_*1496delinsTG
XM_011514716.3:c.*1495_*1496delinsTG	XP_011513018.1:n.*1495_*1496delinsTG
NM_017770.4:c.*1495_*1496delinsTG MANE Select	NP_060240.3:n.*1495_*1496delinsTG