Canonical Allele Identifier: CA2825001525
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 3233529
ClinVar RCV Id: RCV004526379
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841359_128841363delinsGT , CM000669.2:g.128841359_128841363delinsGT GRCh38
NC_000007.13:g.128481413_128481417delinsGT , CM000669.1:g.128481413_128481417delinsGT GRCh37
NC_000007.12:g.128268649_128268653delinsGT NCBI36
NG_011807.1:g.15931_15935delinsGT , LRG_870:g.15931_15935delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.2003_2007delinsGT MANE Select ENSP00000327145.8:p.Asp668_Lys669delinsGly
ENST00000325888.12:c.2003_2007delinsGT ENSP00000327145.8:p.Asp668_Lys669delinsGly
ENST00000346177.6:c.2003_2007delinsGT ENSP00000344002.6:p.Asp668_Lys669delinsGly
ENST00000388853.3:n.29_33delinsGT
NM_001127487.1:c.2003_2007delinsGT NP_001120959.1:p.Asp668_Lys669delinsGly
NM_001458.4:c.2003_2007delinsGT , LRG_870t1:c.2003_2007delinsGT NP_001449.3:p.Asp668_Lys669delinsGly
NM_001127487.2:c.2003_2007delinsGT NP_001120959.1:p.Asp668_Lys669delinsGly
NM_001458.5:c.2003_2007delinsGT MANE Select NP_001449.3:p.Asp668_Lys669delinsGly
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