Canonical Allele Identifier: CA2580076543
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2100781
ClinVar RCV Id: RCV003014576
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128849400_128849402del , CM000669.2:g.128849400_128849402del GRCh38
NC_000007.13:g.128489454_128489456del , CM000669.1:g.128489454_128489456del GRCh37
NC_000007.12:g.128276690_128276692del NCBI36
NG_011807.1:g.23972_23974del , LRG_870:g.23972_23974del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.5021_5023del MANE Select ENSP00000327145.8:p.Gly1674del
ENST00000325888.12:c.5021_5023del ENSP00000327145.8:p.Gly1674del
ENST00000346177.6:c.5021_5023del ENSP00000344002.6:p.Gly1674del
NM_001127487.1:c.5021_5023del NP_001120959.1:p.Gly1674del
NM_001458.4:c.5021_5023del , LRG_870t1:c.5021_5023del NP_001449.3:p.Gly1674del
NM_001127487.2:c.5021_5023del NP_001120959.1:p.Gly1674del
NM_001458.5:c.5021_5023del MANE Select NP_001449.3:p.Gly1674del
Search 100 bp 5'
Search 100 bp 3'