Canonical Allele Identifier: CA3774365
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1694
ClinVar RCV Id: RCV000001762 RCV001291454
dbSNP Id: rs779841884
ExAC: 6:35773692 GC / G
gnomAD v2: 6-35773692-GC-G
gnomAD v3: 6-35805915-GC-G
gnomAD v4: 6-35805915-GC-G
MyVariant Identifiers: chr6:g.35773693del (hg19) chr6:g.35805916del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35805920del , CM000668.2:g.35805920del GRCh38
NC_000006.11:g.35773697del , CM000668.1:g.35773697del GRCh37
NC_000006.10:g.35881675del NCBI36
NG_012184.1:g.5627del
NG_012184.2:g.5627del
NG_012184.3:g.13715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.250del MANE Select ENSP00000353346.1:p.Leu84Ter
ENST00000651132.1:c.250del ENSP00000498322.1:p.Leu84Ter
ENST00000651676.1:c.250del ENSP00000498699.1:p.Leu84Ter
ENST00000651994.1:c.250del ENSP00000498310.1:p.Leu84Ter
ENST00000652718.1:c.82del ENSP00000498866.1:p.Leu28Ter
ENST00000360215.2:c.250del ENSP00000353346.1:p.Leu84Ter
NM_182548.3:c.250del NP_872354.1:p.Leu84Ter
XM_011514403.1:c.250del XP_011512705.1:p.Leu84Ter
NM_182548.4:c.250del MANE Select NP_872354.1:p.Leu84Ter
Search 100 bp 5'
Search 100 bp 3'