Canonical Allele Identifier: CA817083884

Gene: ELOVL2

Linked Data

• dbSNP Id: rs1491588393
• gnomAD v3: 6-10982285-CAG-C
• gnomAD v4: 6-10982285-CAG-C
• MyVariant Identifiers: chr6:g.10982519_10982520del (hg19) ; chr6:g.10982286_10982287del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10982286_10982287del , CM000668.2:g.10982286_10982287del	GRCh38
NC_000006.11:g.10982519_10982520del , CM000668.1:g.10982519_10982520del	GRCh37
NC_000006.10:g.11090505_11090506del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354666.4:c.*1494_*1495del MANE Select	ENSP00000346693.3:n.*1494_*1495del
ENST00000354666.3:c.*1494_*1495del	ENSP00000346693.3:n.*1494_*1495del
NM_017770.3:c.*1494_*1495del	NP_060240.3:n.*1494_*1495del
XM_011514716.1:c.*1494_*1495del	XP_011513018.1:n.*1494_*1495del
XM_011514717.1:c.*1494_*1495del	XP_011513019.1:n.*1494_*1495del
XM_011514716.3:c.*1494_*1495del	XP_011513018.1:n.*1494_*1495del
NM_017770.4:c.*1494_*1495del MANE Select	NP_060240.3:n.*1494_*1495del