Canonical Allele Identifier: CA2499218723

Gene: FLNC

Linked Data

• ClinVar Variation Id: 1068840
• ClinVar RCV Id: RCV001380510
• dbSNP Id: rs2128935287

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128841347_128841350del , CM000669.2:g.128841347_128841350del	GRCh38
NC_000007.13:g.128481401_128481404del , CM000669.1:g.128481401_128481404del	GRCh37
NC_000007.12:g.128268637_128268640del	NCBI36
NG_011807.1:g.15919_15922del , LRG_870:g.15919_15922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325888.13:c.1991_1994del MANE Select	ENSP00000327145.8:p.Asp664AlafsTer6
ENST00000325888.12:c.1991_1994del	ENSP00000327145.8:p.Asp664AlafsTer6
ENST00000346177.6:c.1991_1994del	ENSP00000344002.6:p.Asp664AlafsTer6
ENST00000388853.3:n.17_20del
NM_001127487.1:c.1991_1994del	NP_001120959.1:p.Asp664AlafsTer6
NM_001458.4:c.1991_1994del , LRG_870t1:c.1991_1994del	NP_001449.3:p.Asp664AlafsTer6
NM_001127487.2:c.1991_1994del	NP_001120959.1:p.Asp664AlafsTer6
NM_001458.5:c.1991_1994del MANE Select	NP_001449.3:p.Asp664AlafsTer6