Canonical Allele Identifier: CA7312639
Gene: FBLN5 HGNC NCBI

Linked Data

dbSNP Id: rs777499004

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91877682_91877683insGCTTCCAGAACTATGAGAGAATAAATTTCCTTTGCCTTAAGTCAC , CM000676.2:g.91877682_91877683insGCTTCCAGAACTATGAGAGAATAAATTTCCTTTGCCTTAAGTCAC GRCh38
NC_000014.8:g.92344026_92344027insGCTTCCAGAACTATGAGAGAATAAATTTCCTTTGCCTTAAGTCAC , CM000676.1:g.92344026_92344027insGCTTCCAGAACTATGAGAGAATAAATTTCCTTTGCCTTAAGTCAC GRCh37
NC_000014.7:g.91413779_91413780insGCTTCCAGAACTATGAGAGAATAAATTTCCTTTGCCTTAAGTCAC NCBI36
NG_008254.1:g.75020_75021insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC , LRG_364:g.75020_75021insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000557088.6:c.*956-1_*956insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000451002.1:n.*956-1_*956insGTGACTTAAGGCAAAGGAAATTTATTC...
ENST00000557570.2:c.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000450787.2:n.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTC...
ENST00000706675.1:n.805-1_805insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC
ENST00000706676.1:c.1164-1_1164insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000516492.1:n.1164-1_1164insGTGACTTAAGGCAAAGGAAATTTATTC...
ENST00000706677.1:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000516493.1:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTC...
ENST00000706678.1:n.910-1_910insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC
ENST00000706679.1:c.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000516494.1:n.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTC...
ENST00000706680.1:c.*833-1_*833insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000516495.1:n.*833-1_*833insGTGACTTAAGGCAAAGGAAATTTATTC...
ENST00000706681.1:c.*729-1_*729insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000516496.1:n.*729-1_*729insGTGACTTAAGGCAAAGGAAATTTATTC...
ENST00000342058.9:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC MANE Select ENSP00000345008.4:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTC...
ENST00000267620.14:c.1113-1_1113insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000267620.10:n.1113-1_1113insGTGACTTAAGGCAAAGGAAATTTATT...
ENST00000342058.8:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000345008.4:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTC...
ENST00000554121.2:n.116-1_116insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC
ENST00000556154.5:c.1005-1_1005insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC ENSP00000451982.1:n.1005-1_1005insGTGACTTAAGGCAAAGGAAATTTATTC...
NM_006329.3:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC , LRG_364t1:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC NP_006320.2:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAG...
XM_005267267.3:c.1041-1_1041insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC XP_005267324.1:n.1041-1_1041insGTGACTTAAGGCAAAGGAAATTTATTCTCT...
XM_011536356.1:c.1041-1_1041insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC XP_011534658.1:n.1041-1_1041insGTGACTTAAGGCAAAGGAAATTTATTCTCT...
XM_011536357.1:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC XP_011534659.1:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
XM_011536358.1:c.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC XP_011534660.1:n.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
XM_011536357.2:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC XP_011534659.1:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
XM_011536358.2:c.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC XP_011534660.1:n.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
XM_017020929.2:c.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC XP_016876418.1:n.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
NM_001384158.1:c.1113-1_1113insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC NP_001371087.1:n.1113-1_1113insGTGACTTAAGGCAAAGGAAATTTATTCTCT...
NM_001384159.1:c.1041-1_1041insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC NP_001371088.1:n.1041-1_1041insGTGACTTAAGGCAAAGGAAATTTATTCTCT...
NM_001384160.1:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC NP_001371089.1:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
NM_001384161.1:c.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC NP_001371090.1:n.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
NM_001384162.1:c.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC NP_001371091.1:n.822-1_822insGTGACTTAAGGCAAAGGAAATTTATTCTCTCA...
NM_006329.4:c.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAGTTCTGGAAGC MANE Select NP_006320.2:n.990-1_990insGTGACTTAAGGCAAAGGAAATTTATTCTCTCATAG...