Canonical Allele Identifier: CA16622130
Gene: FLNC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128845115_128845117del , CM000669.2:g.128845115_128845117del GRCh38
NC_000007.13:g.128485169_128485171del , CM000669.1:g.128485169_128485171del GRCh37
NC_000007.12:g.128272405_128272407del NCBI36
NG_011807.1:g.19687_19689del , LRG_870:g.19687_19689del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3650_3652del MANE Select ENSP00000327145.8:p.Ser1217_Pro1218delinsThr
ENST00000325888.12:c.3650_3652del ENSP00000327145.8:p.Ser1217_Pro1218delinsThr
ENST00000346177.6:c.3650_3652del ENSP00000344002.6:p.Ser1217_Pro1218delinsThr
NM_001127487.1:c.3650_3652del NP_001120959.1:p.Ser1217_Pro1218delinsThr
NM_001458.4:c.3650_3652del , LRG_870t1:c.3650_3652del NP_001449.3:p.Ser1217_Pro1218delinsThr
NM_001127487.2:c.3650_3652del NP_001120959.1:p.Ser1217_Pro1218delinsThr
NM_001458.5:c.3650_3652del MANE Select NP_001449.3:p.Ser1217_Pro1218delinsThr
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