Canonical Allele Identifier: CA2580076606
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2444230
ClinVar RCV Id: RCV003153028
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844808_128844809insT , CM000669.2:g.128844808_128844809insT GRCh38
NC_000007.13:g.128484862_128484863insT , CM000669.1:g.128484862_128484863insT GRCh37
NC_000007.12:g.128272098_128272099insT NCBI36
NG_011807.1:g.19380_19381insT , LRG_870:g.19380_19381insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3343_3344insT MANE Select ENSP00000327145.8:p.Gly1115ValfsTer23
ENST00000325888.12:c.3343_3344insT ENSP00000327145.8:p.Gly1115ValfsTer23
ENST00000346177.6:c.3343_3344insT ENSP00000344002.6:p.Gly1115ValfsTer23
NM_001127487.1:c.3343_3344insT NP_001120959.1:p.Gly1115ValfsTer23
NM_001458.4:c.3343_3344insT , LRG_870t1:c.3343_3344insT NP_001449.3:p.Gly1115ValfsTer23
NM_001127487.2:c.3343_3344insT NP_001120959.1:p.Gly1115ValfsTer23
NM_001458.5:c.3343_3344insT MANE Select NP_001449.3:p.Gly1115ValfsTer23
Search 100 bp 5'
Search 100 bp 3'