Canonical Allele Identifier: CA10626703
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 356501
ClinVar RCV Id: RCV000373514
dbSNP Id: rs763619245
gnomAD v2: 6-35791163-TATACAC-T
gnomAD v3: 6-35823386-TATACAC-T
gnomAD v4: 6-35823386-TATACAC-T
MyVariant Identifiers: chr6:g.35791165_35791170del (hg19) chr6:g.35791164_35791169del (hg19) chr6:g.35791165_35791175delinsCACAC (hg19) chr6:g.35823388_35823393del (hg38) chr6:g.35823387_35823392del (hg38) chr6:g.35823388_35823398delinsCACAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823388_35823393del , CM000668.2:g.35823388_35823393del GRCh38
NC_000006.11:g.35791165_35791170del , CM000668.1:g.35791165_35791170del GRCh37
NC_000006.10:g.35899143_35899148del NCBI36
NG_012184.1:g.23095_23100del
NG_012184.2:g.23095_23100del
NG_012184.3:g.31183_31188del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*423_*428del MANE Select ENSP00000353346.1:n.*423_*428del
ENST00000496656.2:n.578+3568_578+3573del
ENST00000651132.1:c.*423_*428del ENSP00000498322.1:n.*423_*428del
ENST00000651676.1:c.*16+3925_*16+3930del ENSP00000498699.1:n.*16+3925_*16+3930del
ENST00000651994.1:c.*503_*508del ENSP00000498310.1:n.*503_*508del
ENST00000652718.1:c.508+3925_508+3930del ENSP00000498866.1:n.508+3925_508+3930del
ENST00000360215.2:c.*423_*428del ENSP00000353346.1:n.*423_*428del
ENST00000496656.1:n.812+3568_812+3573del
NM_182548.3:c.*423_*428del NP_872354.1:n.*423_*428del
NM_182548.4:c.*423_*428del MANE Select NP_872354.1:n.*423_*428del
Search 100 bp 5'
Search 100 bp 3'