Canonical Allele Identifier: CA2155139592
Gene: FBLN5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91877667_91877668delinsAG , CM000676.2:g.91877667_91877668delinsAG GRCh38
NC_000014.8:g.92344011_92344012delinsAG , CM000676.1:g.92344011_92344012delinsAG GRCh37
NC_000014.7:g.91413764_91413765delinsAG NCBI36
NG_008254.1:g.75035_75036delinsCT , LRG_364:g.75035_75036delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000557088.6:c.*970_*971delinsCT ENSP00000451002.1:n.*970_*971delinsCT
ENST00000557570.2:c.836_837delinsCT ENSP00000450787.2:p.Pro279=
ENST00000706675.1:n.819_820delinsCT
ENST00000706676.1:c.1178_1179delinsCT ENSP00000516492.1:p.Pro393=
ENST00000706677.1:c.1004_1005delinsCT ENSP00000516493.1:p.Pro335=
ENST00000706678.1:n.924_925delinsCT
ENST00000706679.1:c.836_837delinsCT ENSP00000516494.1:p.Pro279=
ENST00000706680.1:c.*847_*848delinsCT ENSP00000516495.1:n.*847_*848delinsCT
ENST00000706681.1:c.*743_*744delinsCT ENSP00000516496.1:n.*743_*744delinsCT
ENST00000342058.9:c.1004_1005delinsCT MANE Select ENSP00000345008.4:p.Pro335=
ENST00000267620.14:c.1127_1128delinsCT ENSP00000267620.10:p.Pro376=
ENST00000342058.8:c.1004_1005delinsCT ENSP00000345008.4:p.Pro335=
ENST00000554121.2:n.130_131delinsCT
ENST00000556154.5:c.1019_1020delinsCT ENSP00000451982.1:p.Pro340=
NM_006329.3:c.1004_1005delinsCT , LRG_364t1:c.1004_1005delinsCT NP_006320.2:p.Pro335=
XM_005267267.3:c.1055_1056delinsCT XP_005267324.1:p.Pro352=
XM_011536356.1:c.1055_1056delinsCT XP_011534658.1:p.Pro352=
XM_011536357.1:c.1004_1005delinsCT XP_011534659.1:p.Pro335=
XM_011536358.1:c.836_837delinsCT XP_011534660.1:p.Pro279=
XM_011536357.2:c.1004_1005delinsCT XP_011534659.1:p.Pro335=
XM_011536358.2:c.836_837delinsCT XP_011534660.1:p.Pro279=
XM_017020929.2:c.836_837delinsCT XP_016876418.1:p.Pro279=
NM_001384158.1:c.1127_1128delinsCT NP_001371087.1:p.Pro376=
NM_001384159.1:c.1055_1056delinsCT NP_001371088.1:p.Pro352=
NM_001384160.1:c.1004_1005delinsCT NP_001371089.1:p.Pro335=
NM_001384161.1:c.836_837delinsCT NP_001371090.1:p.Pro279=
NM_001384162.1:c.836_837delinsCT NP_001371091.1:p.Pro279=
NM_006329.4:c.1004_1005delinsCT MANE Select NP_006320.2:p.Pro335=