Canonical Allele Identifier: CA2155127385

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91911498_91911501delinsGGAA , CM000676.2:g.91911498_91911501delinsGGAA	GRCh38
NC_000014.8:g.92377842_92377845delinsGGAA , CM000676.1:g.92377842_92377845delinsGGAA	GRCh37
NC_000014.7:g.91447595_91447598delinsGGAA	NCBI36
NG_008254.1:g.41202_41205delinsTTCC , LRG_364:g.41202_41205delinsTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*346-16429_*346-16426delinsTTCC	ENSP00000451002.1:n.*346-16429_*346-16426delinsTTCC
ENST00000557570.2:c.212-16429_212-16426delinsTTCC	ENSP00000450787.2:n.212-16429_212-16426delinsTTCC
ENST00000706676.1:c.554-16429_554-16426delinsTTCC	ENSP00000516492.1:n.554-16429_554-16426delinsTTCC
ENST00000706677.1:c.380-16429_380-16426delinsTTCC	ENSP00000516493.1:n.380-16429_380-16426delinsTTCC
ENST00000706679.1:c.212-16429_212-16426delinsTTCC	ENSP00000516494.1:n.212-16429_212-16426delinsTTCC
ENST00000706680.1:c.*346-20164_*346-20161delinsTTCC	ENSP00000516495.1:n.*346-20164_*346-20161delinsTTCC
ENST00000706681.1:c.*119-16429_*119-16426delinsTTCC	ENSP00000516496.1:n.*119-16429_*119-16426delinsTTCC
ENST00000342058.9:c.380-16429_380-16426delinsTTCC MANE Select	ENSP00000345008.4:n.380-16429_380-16426delinsTTCC
ENST00000267620.14:c.503-16429_503-16426delinsTTCC	ENSP00000267620.10:n.503-16429_503-16426delinsTTCC
ENST00000342058.8:c.380-16429_380-16426delinsTTCC	ENSP00000345008.4:n.380-16429_380-16426delinsTTCC
ENST00000556154.5:c.395-16429_395-16426delinsTTCC	ENSP00000451982.1:n.395-16429_395-16426delinsTTCC
ENST00000557088.5:c.*346-16429_*346-16426delinsTTCC	ENSP00000451002.1:n.*346-16429_*346-16426delinsTTCC
NM_006329.3:c.380-16429_380-16426delinsTTCC , LRG_364t1:c.380-16429_380-16426delinsTTCC	NP_006320.2:n.380-16429_380-16426delinsTTCC
XM_005267267.3:c.431-16429_431-16426delinsTTCC	XP_005267324.1:n.431-16429_431-16426delinsTTCC
XM_011536356.1:c.431-16429_431-16426delinsTTCC	XP_011534658.1:n.431-16429_431-16426delinsTTCC
XM_011536357.1:c.380-16429_380-16426delinsTTCC	XP_011534659.1:n.380-16429_380-16426delinsTTCC
XM_011536358.1:c.212-16429_212-16426delinsTTCC	XP_011534660.1:n.212-16429_212-16426delinsTTCC
XM_011536357.2:c.380-16429_380-16426delinsTTCC	XP_011534659.1:n.380-16429_380-16426delinsTTCC
XM_011536358.2:c.212-16429_212-16426delinsTTCC	XP_011534660.1:n.212-16429_212-16426delinsTTCC
XM_017020929.2:c.212-16429_212-16426delinsTTCC	XP_016876418.1:n.212-16429_212-16426delinsTTCC
NM_001384158.1:c.503-16429_503-16426delinsTTCC	NP_001371087.1:n.503-16429_503-16426delinsTTCC
NM_001384159.1:c.431-16429_431-16426delinsTTCC	NP_001371088.1:n.431-16429_431-16426delinsTTCC
NM_001384160.1:c.380-16429_380-16426delinsTTCC	NP_001371089.1:n.380-16429_380-16426delinsTTCC
NM_001384161.1:c.212-16429_212-16426delinsTTCC	NP_001371090.1:n.212-16429_212-16426delinsTTCC
NM_001384162.1:c.212-16429_212-16426delinsTTCC	NP_001371091.1:n.212-16429_212-16426delinsTTCC
NM_006329.4:c.380-16429_380-16426delinsTTCC MANE Select	NP_006320.2:n.380-16429_380-16426delinsTTCC