Canonical Allele Identifier: CA2155139263

Gene: FBLN5

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877462_91877469delinsGTCCCCAC , CM000676.2:g.91877462_91877469delinsGTCCCCAC	GRCh38
NC_000014.8:g.92343806_92343813delinsGTCCCCAC , CM000676.1:g.92343806_92343813delinsGTCCCCAC	GRCh37
NC_000014.7:g.91413559_91413566delinsGTCCCCAC	NCBI36
NG_008254.1:g.75234_75241delinsGTGGGGAC , LRG_364:g.75234_75241delinsGTGGGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1151+18_*1151+25delinsGTGGGGAC	ENSP00000451002.1:n.*1151+18_*1151+25delinsGTGGGGAC
ENST00000557570.2:c.1017+18_1017+25delinsGTGGGGAC	ENSP00000450787.2:n.1017+18_1017+25delinsGTGGGGAC
ENST00000706675.1:n.1000+18_1000+25delinsGTGGGGAC
ENST00000706676.1:c.1359+18_1359+25delinsGTGGGGAC	ENSP00000516492.1:n.1359+18_1359+25delinsGTGGGGAC
ENST00000706677.1:c.1185+18_1185+25delinsGTGGGGAC	ENSP00000516493.1:n.1185+18_1185+25delinsGTGGGGAC
ENST00000706678.1:n.1105+18_1105+25delinsGTGGGGAC
ENST00000706679.1:c.1017+18_1017+25delinsGTGGGGAC	ENSP00000516494.1:n.1017+18_1017+25delinsGTGGGGAC
ENST00000706680.1:c.*1028+18_*1028+25delinsGTGGGGAC	ENSP00000516495.1:n.*1028+18_*1028+25delinsGTGGGGAC
ENST00000706681.1:c.*924+18_*924+25delinsGTGGGGAC	ENSP00000516496.1:n.*924+18_*924+25delinsGTGGGGAC
ENST00000342058.9:c.1185+18_1185+25delinsGTGGGGAC MANE Select	ENSP00000345008.4:n.1185+18_1185+25delinsGTGGGGAC
ENST00000267620.14:c.1308+18_1308+25delinsGTGGGGAC	ENSP00000267620.10:n.1308+18_1308+25delinsGTGGGGAC
ENST00000342058.8:c.1185+18_1185+25delinsGTGGGGAC	ENSP00000345008.4:n.1185+18_1185+25delinsGTGGGGAC
ENST00000554121.2:n.311+18_311+25delinsGTGGGGAC
ENST00000556154.5:c.1200+18_1200+25delinsGTGGGGAC	ENSP00000451982.1:n.1200+18_1200+25delinsGTGGGGAC
NM_006329.3:c.1185+18_1185+25delinsGTGGGGAC , LRG_364t1:c.1185+18_1185+25delinsGTGGGGAC	NP_006320.2:n.1185+18_1185+25delinsGTGGGGAC
XM_005267267.3:c.1236+18_1236+25delinsGTGGGGAC	XP_005267324.1:n.1236+18_1236+25delinsGTGGGGAC
XM_011536356.1:c.1236+18_1236+25delinsGTGGGGAC	XP_011534658.1:n.1236+18_1236+25delinsGTGGGGAC
XM_011536357.1:c.1185+18_1185+25delinsGTGGGGAC	XP_011534659.1:n.1185+18_1185+25delinsGTGGGGAC
XM_011536358.1:c.1017+18_1017+25delinsGTGGGGAC	XP_011534660.1:n.1017+18_1017+25delinsGTGGGGAC
XM_011536357.2:c.1185+18_1185+25delinsGTGGGGAC	XP_011534659.1:n.1185+18_1185+25delinsGTGGGGAC
XM_011536358.2:c.1017+18_1017+25delinsGTGGGGAC	XP_011534660.1:n.1017+18_1017+25delinsGTGGGGAC
XM_017020929.2:c.1017+18_1017+25delinsGTGGGGAC	XP_016876418.1:n.1017+18_1017+25delinsGTGGGGAC
NM_001384158.1:c.1308+18_1308+25delinsGTGGGGAC	NP_001371087.1:n.1308+18_1308+25delinsGTGGGGAC
NM_001384159.1:c.1236+18_1236+25delinsGTGGGGAC	NP_001371088.1:n.1236+18_1236+25delinsGTGGGGAC
NM_001384160.1:c.1185+18_1185+25delinsGTGGGGAC	NP_001371089.1:n.1185+18_1185+25delinsGTGGGGAC
NM_001384161.1:c.1017+18_1017+25delinsGTGGGGAC	NP_001371090.1:n.1017+18_1017+25delinsGTGGGGAC
NM_001384162.1:c.1017+18_1017+25delinsGTGGGGAC	NP_001371091.1:n.1017+18_1017+25delinsGTGGGGAC
NM_006329.4:c.1185+18_1185+25delinsGTGGGGAC MANE Select	NP_006320.2:n.1185+18_1185+25delinsGTGGGGAC