Canonical Allele Identifier: CA2740097551
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2945822
ClinVar RCV Id: RCV003803916
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128840963_128840966dup , CM000669.2:g.128840963_128840966dup GRCh38
NC_000007.13:g.128481017_128481020dup , CM000669.1:g.128481017_128481020dup GRCh37
NC_000007.12:g.128268253_128268256dup NCBI36
NG_011807.1:g.15535_15538dup , LRG_870:g.15535_15538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1806_1809dup MANE Select ENSP00000327145.8:p.Leu604AspfsTer17
ENST00000325888.12:c.1806_1809dup ENSP00000327145.8:p.Leu604AspfsTer17
ENST00000346177.6:c.1806_1809dup ENSP00000344002.6:p.Leu604AspfsTer17
NM_001127487.1:c.1806_1809dup NP_001120959.1:p.Leu604AspfsTer17
NM_001458.4:c.1806_1809dup , LRG_870t1:c.1806_1809dup NP_001449.3:p.Leu604AspfsTer17
NM_001127487.2:c.1806_1809dup NP_001120959.1:p.Leu604AspfsTer17
NM_001458.5:c.1806_1809dup MANE Select NP_001449.3:p.Leu604AspfsTer17
Search 100 bp 5'
Search 100 bp 3'