Canonical Allele Identifier: CA2626159721

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91870423-C-CGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91870423_91870424insGCCA , CM000676.2:g.91870423_91870424insGCCA	GRCh38
NC_000014.8:g.92336767_92336768insGCCA , CM000676.1:g.92336767_92336768insGCCA	GRCh37
NC_000014.7:g.91406520_91406521insGCCA	NCBI36
NG_008254.1:g.82279_82280insTGGC , LRG_364:g.82279_82280insTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1152-39_*1152-38insTGGC	ENSP00000451002.1:n.*1152-39_*1152-38insTGGC
ENST00000557570.2:c.1018-39_1018-38insTGGC	ENSP00000450787.2:n.1018-39_1018-38insTGGC
ENST00000706675.1:n.1001-39_1001-38insTGGC
ENST00000706676.1:c.1360-39_1360-38insTGGC	ENSP00000516492.1:n.1360-39_1360-38insTGGC
ENST00000706677.1:c.1365-39_1365-38insTGGC	ENSP00000516493.1:n.1365-39_1365-38insTGGC
ENST00000706678.1:n.1106-39_1106-38insTGGC
ENST00000706679.1:c.1018-39_1018-38insTGGC	ENSP00000516494.1:n.1018-39_1018-38insTGGC
ENST00000706680.1:c.*1029-39_*1029-38insTGGC	ENSP00000516495.1:n.*1029-39_*1029-38insTGGC
ENST00000706681.1:c.*925-39_*925-38insTGGC	ENSP00000516496.1:n.*925-39_*925-38insTGGC
ENST00000342058.9:c.1186-39_1186-38insTGGC MANE Select	ENSP00000345008.4:n.1186-39_1186-38insTGGC
ENST00000267620.14:c.1309-39_1309-38insTGGC	ENSP00000267620.10:n.1309-39_1309-38insTGGC
ENST00000342058.8:c.1186-39_1186-38insTGGC	ENSP00000345008.4:n.1186-39_1186-38insTGGC
ENST00000554121.2:n.312-39_312-38insTGGC
ENST00000556154.5:c.1201-39_1201-38insTGGC	ENSP00000451982.1:n.1201-39_1201-38insTGGC
ENST00000556961.1:n.1321-39_1321-38insTGGC
NM_006329.3:c.1186-39_1186-38insTGGC , LRG_364t1:c.1186-39_1186-38insTGGC	NP_006320.2:n.1186-39_1186-38insTGGC
XM_005267267.3:c.1237-39_1237-38insTGGC	XP_005267324.1:n.1237-39_1237-38insTGGC
XM_011536356.1:c.1416-39_1416-38insTGGC	XP_011534658.1:n.1416-39_1416-38insTGGC
XM_011536357.1:c.1365-39_1365-38insTGGC	XP_011534659.1:n.1365-39_1365-38insTGGC
XM_011536358.1:c.1197-39_1197-38insTGGC	XP_011534660.1:n.1197-39_1197-38insTGGC
XM_011536357.2:c.1365-39_1365-38insTGGC	XP_011534659.1:n.1365-39_1365-38insTGGC
XM_011536358.2:c.1197-39_1197-38insTGGC	XP_011534660.1:n.1197-39_1197-38insTGGC
XM_017020929.2:c.1018-39_1018-38insTGGC	XP_016876418.1:n.1018-39_1018-38insTGGC
NM_001384158.1:c.1309-39_1309-38insTGGC	NP_001371087.1:n.1309-39_1309-38insTGGC
NM_001384159.1:c.1237-39_1237-38insTGGC	NP_001371088.1:n.1237-39_1237-38insTGGC
NM_001384160.1:c.1365-39_1365-38insTGGC	NP_001371089.1:n.1365-39_1365-38insTGGC
NM_001384161.1:c.1197-39_1197-38insTGGC	NP_001371090.1:n.1197-39_1197-38insTGGC
NM_001384162.1:c.1018-39_1018-38insTGGC	NP_001371091.1:n.1018-39_1018-38insTGGC
NM_006329.4:c.1186-39_1186-38insTGGC MANE Select	NP_006320.2:n.1186-39_1186-38insTGGC