Canonical Allele Identifier: CA565392491
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1353975919
gnomAD v2: 6-10982525-GA-G
gnomAD v3: 6-10982292-GA-G
gnomAD v4: 6-10982292-GA-G
MyVariant Identifiers: chr6:g.10982526del (hg19) chr6:g.10982293del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982299del , CM000668.2:g.10982299del GRCh38
NC_000006.11:g.10982532del , CM000668.1:g.10982532del GRCh37
NC_000006.10:g.11090518del NCBI36

Transcript Alleles

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