Canonical Allele Identifier: CA236451
Gene: LCA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 191333
ClinVar RCV Id: RCV000171526
dbSNP Id: rs786205653
MyVariant Identifiers: chr6:g.80201383del (hg19) chr6:g.79491666del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79491666del , CM000668.2:g.79491666del GRCh38
NC_000006.11:g.80201383del , CM000668.1:g.80201383del GRCh37
NC_000006.10:g.80258102del NCBI36
NG_016011.1:g.50765del

Transcript Alleles

HGVS Amino-acid change
ENST00000369846.9:c.1020del MANE Select ENSP00000358861.4:p.Lys340AsnfsTer7
ENST00000369846.8:c.1020del ENSP00000358861.4:p.Lys340AsnfsTer7
ENST00000392959.5:c.1020del ENSP00000376686.1:p.Lys340AsnfsTer7
ENST00000467898.3:c.1020del ENSP00000474463.1:p.Lys340AsnfsTer7
NM_001122769.2:c.1020del NP_001116241.1:p.Lys340AsnfsTer7
NM_181714.3:c.1020del NP_859065.2:p.Lys340AsnfsTer7
XM_005248665.3:c.1020del XP_005248722.1:p.Lys340AsnfsTer7
XM_011535504.1:c.1020del XP_011533806.1:p.Lys340AsnfsTer7
XM_005248665.4:c.1020del XP_005248722.1:p.Lys340AsnfsTer7
NM_001122769.3:c.1020del MANE Select NP_001116241.1:p.Lys340AsnfsTer7
NM_181714.4:c.1020del NP_859065.2:p.Lys340AsnfsTer7
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