Canonical Allele Identifier: CA16043775
Gene: LCA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 374516
ClinVar RCV Id: RCV000415875 RCV001257107
dbSNP Id: rs1057519136
MyVariant Identifiers: chr6:g.80223074_80223075insT (hg19) chr6:g.79513357_79513358insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79513358dup , CM000668.2:g.79513358dup GRCh38
NC_000006.11:g.80223075dup , CM000668.1:g.80223075dup GRCh37
NC_000006.10:g.80279794dup NCBI36
NG_016011.1:g.29073dup

Transcript Alleles

HGVS Amino-acid change
ENST00000369846.9:c.574dup MANE Select ENSP00000358861.4:p.Thr192AsnfsTer4
ENST00000369846.8:c.574dup ENSP00000358861.4:p.Thr192AsnfsTer4
ENST00000392959.5:c.574dup ENSP00000376686.1:p.Thr192AsnfsTer4
ENST00000467898.3:c.574dup ENSP00000474463.1:p.Thr192AsnfsTer4
NM_001122769.2:c.574dup NP_001116241.1:p.Thr192AsnfsTer4
NM_181714.3:c.574dup NP_859065.2:p.Thr192AsnfsTer4
XM_005248665.3:c.574dup XP_005248722.1:p.Thr192AsnfsTer4
XM_011535504.1:c.574dup XP_011533806.1:p.Thr192AsnfsTer4
XM_005248665.4:c.574dup XP_005248722.1:p.Thr192AsnfsTer4
NM_001122769.3:c.574dup MANE Select NP_001116241.1:p.Thr192AsnfsTer4
NM_181714.4:c.574dup NP_859065.2:p.Thr192AsnfsTer4
Search 100 bp 5'
Search 100 bp 3'