Canonical Allele Identifier: CA2684815367
Gene: FLNC HGNC NCBI

Linked Data

gnomAD v4: 7-128843064-G-GCC
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128843066_128843067dup , CM000669.2:g.128843066_128843067dup GRCh38
NC_000007.13:g.128483120_128483121dup , CM000669.1:g.128483120_128483121dup GRCh37
NC_000007.12:g.128270356_128270357dup NCBI36
NG_011807.1:g.17638_17639dup , LRG_870:g.17638_17639dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.2550+112_2550+113dup MANE Select ENSP00000327145.8:n.2550+112_2550+113dup
ENST00000325888.12:c.2550+112_2550+113dup ENSP00000327145.8:n.2550+112_2550+113dup
ENST00000346177.6:c.2550+112_2550+113dup ENSP00000344002.6:n.2550+112_2550+113dup
NM_001127487.1:c.2550+112_2550+113dup NP_001120959.1:n.2550+112_2550+113dup
NM_001458.4:c.2550+112_2550+113dup , LRG_870t1:c.2550+112_2550+113dup NP_001449.3:n.2550+112_2550+113dup
NM_001127487.2:c.2550+112_2550+113dup NP_001120959.1:n.2550+112_2550+113dup
NM_001458.5:c.2550+112_2550+113dup MANE Select NP_001449.3:n.2550+112_2550+113dup
Search 100 bp 5'
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