Canonical Allele Identifier: CA908625558

Gene: FLNB

Linked Data

• dbSNP Id: rs1285192073
• gnomAD v3: 3-58077223-C-CCATCACCA
• gnomAD v4: 3-58077223-C-CCATCACCA
• MyVariant Identifiers: chr3:g.58062950_58062951insCATCACCA (hg19) ; chr3:g.58077223_58077224insCATCACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58077224_58077231dup , CM000665.2:g.58077224_58077231dup	GRCh38
NC_000003.11:g.58062951_58062958dup , CM000665.1:g.58062951_58062958dup	GRCh37
NC_000003.10:g.58037991_58037998dup	NCBI36
NG_012801.1:g.73825_73832dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682097.1:c.471_478dup	ENSP00000508183.1:p.Asn160ThrfsTer19
ENST00000682868.1:n.614_621dup
ENST00000682871.1:c.471_478dup	ENSP00000507805.1:p.Asn160ThrfsTer19
ENST00000682987.1:n.614_621dup
ENST00000683511.1:n.630_637dup
ENST00000684107.1:c.471_478dup	ENSP00000507440.1:p.Asn160ThrfsTer19
ENST00000684506.1:c.471_478dup	ENSP00000507728.1:p.Asn160ThrfsTer19
ENST00000684517.1:c.471_478dup	ENSP00000507828.1:p.Asn160ThrfsTer19
ENST00000684607.1:c.471_478dup	ENSP00000508224.1:p.Asn160ThrfsTer19
ENST00000295956.9:c.471_478dup MANE Select	ENSP00000295956.5:p.Asn160ThrfsTer19
ENST00000295956.8:c.471_478dup	ENSP00000295956.4:p.Asn160ThrfsTer19
ENST00000358537.7:c.471_478dup	ENSP00000351339.3:p.Asn160ThrfsTer19
ENST00000429972.6:c.471_478dup	ENSP00000415599.2:p.Asn160ThrfsTer19
ENST00000490882.5:c.471_478dup	ENSP00000420213.1:p.Asn160ThrfsTer19
NM_001164317.1:c.471_478dup	NP_001157789.1:p.Asn160ThrfsTer19
NM_001164318.1:c.471_478dup	NP_001157790.1:p.Asn160ThrfsTer19
NM_001164319.1:c.471_478dup	NP_001157791.1:p.Asn160ThrfsTer19
NM_001457.3:c.471_478dup	NP_001448.2:p.Asn160ThrfsTer19
XM_005264977.1:c.471_478dup	XP_005265034.1:p.Asn160ThrfsTer19
XM_005264978.1:c.471_478dup	XP_005265035.1:p.Asn160ThrfsTer19
XM_005264981.1:c.471_478dup	XP_005265038.1:p.Asn160ThrfsTer19
XR_940396.1:n.616_623dup
XM_005264978.2:c.471_478dup	XP_005265035.1:p.Asn160ThrfsTer19
XR_001740065.1:n.616_623dup
XR_940396.2:n.616_623dup
NM_001164317.2:c.471_478dup	NP_001157789.1:p.Asn160ThrfsTer19
NM_001164318.2:c.471_478dup	NP_001157790.1:p.Asn160ThrfsTer19
NM_001164319.2:c.471_478dup	NP_001157791.1:p.Asn160ThrfsTer19
NM_001457.4:c.471_478dup MANE Select	NP_001448.2:p.Asn160ThrfsTer19