Canonical Allele Identifier: CA7312601

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1988839
• ClinVar RCV Id: RCV002795368
• dbSNP Id: rs756383448
• ExAC: 14:92343806 GTCCCCAC / G
• gnomAD v2: 14-92343806-GTCCCCAC-G
• gnomAD v3: 14-91877462-GTCCCCAC-G
• gnomAD v4: 14-91877462-GTCCCCAC-G
• MyVariant Identifiers: chr14:g.92343807_92343813del (hg19) ; chr14:g.91877463_91877469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877474_91877480del , CM000676.2:g.91877474_91877480del	GRCh38
NC_000014.8:g.92343818_92343824del , CM000676.1:g.92343818_92343824del	GRCh37
NC_000014.7:g.91413571_91413577del	NCBI36
NG_008254.1:g.75234_75240del , LRG_364:g.75234_75240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1151+18_*1151+24del	ENSP00000451002.1:n.*1151+18_*1151+24del
ENST00000557570.2:c.1017+18_1017+24del	ENSP00000450787.2:n.1017+18_1017+24del
ENST00000706675.1:n.1000+18_1000+24del
ENST00000706676.1:c.1359+18_1359+24del	ENSP00000516492.1:n.1359+18_1359+24del
ENST00000706677.1:c.1185+18_1185+24del	ENSP00000516493.1:n.1185+18_1185+24del
ENST00000706678.1:n.1105+18_1105+24del
ENST00000706679.1:c.1017+18_1017+24del	ENSP00000516494.1:n.1017+18_1017+24del
ENST00000706680.1:c.*1028+18_*1028+24del	ENSP00000516495.1:n.*1028+18_*1028+24del
ENST00000706681.1:c.*924+18_*924+24del	ENSP00000516496.1:n.*924+18_*924+24del
ENST00000342058.9:c.1185+18_1185+24del MANE Select	ENSP00000345008.4:n.1185+18_1185+24del
ENST00000267620.14:c.1308+18_1308+24del	ENSP00000267620.10:n.1308+18_1308+24del
ENST00000342058.8:c.1185+18_1185+24del	ENSP00000345008.4:n.1185+18_1185+24del
ENST00000554121.2:n.311+18_311+24del
ENST00000556154.5:c.1200+18_1200+24del	ENSP00000451982.1:n.1200+18_1200+24del
NM_006329.3:c.1185+18_1185+24del , LRG_364t1:c.1185+18_1185+24del	NP_006320.2:n.1185+18_1185+24del
XM_005267267.3:c.1236+18_1236+24del	XP_005267324.1:n.1236+18_1236+24del
XM_011536356.1:c.1236+18_1236+24del	XP_011534658.1:n.1236+18_1236+24del
XM_011536357.1:c.1185+18_1185+24del	XP_011534659.1:n.1185+18_1185+24del
XM_011536358.1:c.1017+18_1017+24del	XP_011534660.1:n.1017+18_1017+24del
XM_011536357.2:c.1185+18_1185+24del	XP_011534659.1:n.1185+18_1185+24del
XM_011536358.2:c.1017+18_1017+24del	XP_011534660.1:n.1017+18_1017+24del
XM_017020929.2:c.1017+18_1017+24del	XP_016876418.1:n.1017+18_1017+24del
NM_001384158.1:c.1308+18_1308+24del	NP_001371087.1:n.1308+18_1308+24del
NM_001384159.1:c.1236+18_1236+24del	NP_001371088.1:n.1236+18_1236+24del
NM_001384160.1:c.1185+18_1185+24del	NP_001371089.1:n.1185+18_1185+24del
NM_001384161.1:c.1017+18_1017+24del	NP_001371090.1:n.1017+18_1017+24del
NM_001384162.1:c.1017+18_1017+24del	NP_001371091.1:n.1017+18_1017+24del
NM_006329.4:c.1185+18_1185+24del MANE Select	NP_006320.2:n.1185+18_1185+24del