Canonical Allele Identifier: CA117147
Gene: ELOVL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4940
ClinVar RCV Id: RCV000005227
dbSNP Id: rs587776613
MyVariant Identifiers: chr6:g.80626477_80626481delinsGTT (hg19) chr6:g.79916760_79916764delinsGTT (hg38)
PubMed: PMID:11726641 PMID:15028284
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79916760_79916764delinsGTT , CM000668.2:g.79916760_79916764delinsGTT GRCh38
NC_000006.11:g.80626477_80626481delinsGTT , CM000668.1:g.80626477_80626481delinsGTT GRCh37
NC_000006.10:g.80683196_80683200delinsGTT NCBI36
NG_009108.1:g.35835_35839delinsAAC
NG_009108.2:g.35835_35839delinsAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000369816.5:c.789_793delinsAAC MANE Select ENSP00000358831.4:p.Asn264ThrfsTer10
ENST00000369816.4:c.789_793delinsAAC ENSP00000358831.4:p.Asn264ThrfsTer10
NM_022726.3:c.789_793delinsAAC NP_073563.1:p.Asn264ThrfsTer10
NM_022726.4:c.789_793delinsAAC MANE Select NP_073563.1:p.Asn264ThrfsTer10
Search 100 bp 5'
Search 100 bp 3'