Canonical Allele Identifier: CA1139667851

Gene: FLNA

Linked Data

• ClinVar Variation Id: 976300
• ClinVar RCV Id: RCV001253547
• dbSNP Id: rs2067802877

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154371108_154371109dup , CM000685.2:g.154371108_154371109dup	GRCh38
NC_000023.10:g.153599476_153599477dup , CM000685.1:g.153599476_153599477dup	GRCh37
NC_000023.9:g.153252670_153252671dup	NCBI36
NG_008677.1:g.1681_1682dup , LRG_745:g.1681_1682dup
NG_011506.1:g.8531_8532dup
NG_011506.2:g.8531_8532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.138_139dup	ENSP00000353467.4:p.Asn47ArgfsTer12
ENST00000369850.10:c.138_139dup MANE Select	ENSP00000358866.3:p.Asn47ArgfsTer12
ENST00000369856.8:c.57_58dup	ENSP00000358872.4:p.Asn20ArgfsTer12
ENST00000422373.6:c.138_139dup	ENSP00000416926.2:p.Asn47ArgfsTer12
ENST00000610817.5:c.138_139dup	ENSP00000480593.2:p.Asn47ArgfsTer12
ENST00000676696.1:c.138_139dup	ENSP00000503392.1:p.Asn47ArgfsTer12
ENST00000344736.8:c.138_139dup	ENSP00000358863.3:p.Asn47ArgfsTer12
ENST00000360319.8:c.138_139dup	ENSP00000353467.4:p.Asn47ArgfsTer12
ENST00000369850.7:c.138_139dup	ENSP00000358866.3:p.Asn47ArgfsTer12
ENST00000369856.7:c.57_58dup	ENSP00000358872.4:p.Asn20ArgfsTer12
ENST00000420627.5:c.96_97dup	ENSP00000408921.1:p.Asn33ArgfsTer12
ENST00000422373.5:c.138_139dup	ENSP00000416926.1:p.Asn47ArgfsTer12
ENST00000610817.4:c.57_58dup	ENSP00000480593.1:p.Asn20ArgfsTer12
NM_001110556.1:c.138_139dup	NP_001104026.1:p.Asn47ArgfsTer12
NM_001456.3:c.138_139dup	NP_001447.2:p.Asn47ArgfsTer12
XM_011531127.1:c.138_139dup	XP_011529429.1:p.Asn47ArgfsTer12
XM_011531128.1:c.138_139dup	XP_011529430.1:p.Asn47ArgfsTer12
XM_011531129.1:c.138_139dup	XP_011529431.1:p.Asn47ArgfsTer12
XM_011531130.1:c.138_139dup	XP_011529432.1:p.Asn47ArgfsTer12
XM_011531131.1:c.138_139dup	XP_011529433.1:p.Asn47ArgfsTer12
NM_001110556.2:c.138_139dup MANE Select	NP_001104026.1:p.Asn47ArgfsTer12
NM_001456.4:c.138_139dup	NP_001447.2:p.Asn47ArgfsTer12