Canonical Allele Identifier: CA1085973497
Gene: ELOVL2 HGNC NCBI

Linked Data

dbSNP Id: rs1781945813
gnomAD v3: 6-10982127-GC-G
gnomAD v4: 6-10982127-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10982129del , CM000668.2:g.10982129del GRCh38
NC_000006.11:g.10982362del , CM000668.1:g.10982362del GRCh37
NC_000006.10:g.11090348del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000354666.4:c.*1653del MANE Select ENSP00000346693.3:n.*1653del
ENST00000354666.3:c.*1653del ENSP00000346693.3:n.*1653del
NM_017770.3:c.*1653del NP_060240.3:n.*1653del
XM_011514716.1:c.*1653del XP_011513018.1:n.*1653del
XM_011514717.1:c.*1653del XP_011513019.1:n.*1653del
XM_011514716.3:c.*1653del XP_011513018.1:n.*1653del
NM_017770.4:c.*1653del MANE Select NP_060240.3:n.*1653del
Search 100 bp 5'
Search 100 bp 3'