Canonical Allele Identifier: CA1107055081
Gene: FLNC HGNC NCBI

Linked Data

dbSNP Id: rs1808635095
gnomAD v3: 7-128848015-TGA-T
gnomAD v4: 7-128848015-TGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128848016_128848017del , CM000669.2:g.128848016_128848017del GRCh38
NC_000007.13:g.128488070_128488071del , CM000669.1:g.128488070_128488071del GRCh37
NC_000007.12:g.128275306_128275307del NCBI36
NG_011807.1:g.22588_22589del , LRG_870:g.22588_22589del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4528_4529del MANE Select ENSP00000327145.8:p.Asp1510ArgfsTer11
ENST00000325888.12:c.4528_4529del ENSP00000327145.8:p.Asp1510ArgfsTer11
ENST00000346177.6:c.4528_4529del ENSP00000344002.6:p.Asp1510ArgfsTer11
NM_001127487.1:c.4528_4529del NP_001120959.1:p.Asp1510ArgfsTer11
NM_001458.4:c.4528_4529del , LRG_870t1:c.4528_4529del NP_001449.3:p.Asp1510ArgfsTer11
NM_001127487.2:c.4528_4529del NP_001120959.1:p.Asp1510ArgfsTer11
NM_001458.5:c.4528_4529del MANE Select NP_001449.3:p.Asp1510ArgfsTer11
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Search 100 bp 3'