Canonical Allele Identifier: CA2695208481

Gene: FLNC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128841204_128841208del , CM000669.2:g.128841204_128841208del	GRCh38
NC_000007.13:g.128481258_128481262del , CM000669.1:g.128481258_128481262del	GRCh37
NC_000007.12:g.128268494_128268498del	NCBI36
NG_011807.1:g.15776_15780del , LRG_870:g.15776_15780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1848_1852del MANE Select	ENSP00000327145.8:p.Ile616MetfsTer2
ENST00000325888.12:c.1848_1852del	ENSP00000327145.8:p.Ile616MetfsTer2
ENST00000346177.6:c.1848_1852del	ENSP00000344002.6:p.Ile616MetfsTer2
NM_001127487.1:c.1848_1852del	NP_001120959.1:p.Ile616MetfsTer2
NM_001458.4:c.1848_1852del , LRG_870t1:c.1848_1852del	NP_001449.3:p.Ile616MetfsTer2
NM_001127487.2:c.1848_1852del	NP_001120959.1:p.Ile616MetfsTer2
NM_001458.5:c.1848_1852del MANE Select	NP_001449.3:p.Ile616MetfsTer2