Canonical Allele Identifier: CA2697557596

Gene: FLNC

Linked Data

• ClinVar Variation Id: 2682366
• ClinVar RCV Id: RCV003479739

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128841236_128841243del , CM000669.2:g.128841236_128841243del	GRCh38
NC_000007.13:g.128481290_128481297del , CM000669.1:g.128481290_128481297del	GRCh37
NC_000007.12:g.128268526_128268533del	NCBI36
NG_011807.1:g.15808_15815del , LRG_870:g.15808_15815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1880_1887del MANE Select	ENSP00000327145.8:p.Asp627ValfsTer16
ENST00000325888.12:c.1880_1887del	ENSP00000327145.8:p.Asp627ValfsTer16
ENST00000346177.6:c.1880_1887del	ENSP00000344002.6:p.Asp627ValfsTer16
NM_001127487.1:c.1880_1887del	NP_001120959.1:p.Asp627ValfsTer16
NM_001458.4:c.1880_1887del , LRG_870t1:c.1880_1887del	NP_001449.3:p.Asp627ValfsTer16
NM_001127487.2:c.1880_1887del	NP_001120959.1:p.Asp627ValfsTer16
NM_001458.5:c.1880_1887del MANE Select	NP_001449.3:p.Asp627ValfsTer16