Canonical Allele Identifier: CA615752346

Gene: FBLN5

Linked Data

• ClinVar Variation Id: 1439713
• ClinVar RCV Id: RCV001978685
• dbSNP Id: rs1257539756
• gnomAD v2: 14-92343818-CACTCCCT-C
• gnomAD v3: 14-91877474-CACTCCCT-C
• gnomAD v4: 14-91877474-CACTCCCT-C
• MyVariant Identifiers: chr14:g.92343819_92343825del (hg19) ; chr14:g.91877475_91877481del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877475_91877481del , CM000676.2:g.91877475_91877481del	GRCh38
NC_000014.8:g.92343819_92343825del , CM000676.1:g.92343819_92343825del	GRCh37
NC_000014.7:g.91413572_91413578del	NCBI36
NG_008254.1:g.75222_75228del , LRG_364:g.75222_75228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1151+6_*1151+12del	ENSP00000451002.1:n.*1151+6_*1151+12del
ENST00000557570.2:c.1017+6_1017+12del	ENSP00000450787.2:n.1017+6_1017+12del
ENST00000706675.1:n.1000+6_1000+12del
ENST00000706676.1:c.1359+6_1359+12del	ENSP00000516492.1:n.1359+6_1359+12del
ENST00000706677.1:c.1185+6_1185+12del	ENSP00000516493.1:n.1185+6_1185+12del
ENST00000706678.1:n.1105+6_1105+12del
ENST00000706679.1:c.1017+6_1017+12del	ENSP00000516494.1:n.1017+6_1017+12del
ENST00000706680.1:c.*1028+6_*1028+12del	ENSP00000516495.1:n.*1028+6_*1028+12del
ENST00000706681.1:c.*924+6_*924+12del	ENSP00000516496.1:n.*924+6_*924+12del
ENST00000342058.9:c.1185+6_1185+12del MANE Select	ENSP00000345008.4:n.1185+6_1185+12del
ENST00000267620.14:c.1308+6_1308+12del	ENSP00000267620.10:n.1308+6_1308+12del
ENST00000342058.8:c.1185+6_1185+12del	ENSP00000345008.4:n.1185+6_1185+12del
ENST00000554121.2:n.311+6_311+12del
ENST00000556154.5:c.1200+6_1200+12del	ENSP00000451982.1:n.1200+6_1200+12del
NM_006329.3:c.1185+6_1185+12del , LRG_364t1:c.1185+6_1185+12del	NP_006320.2:n.1185+6_1185+12del
XM_005267267.3:c.1236+6_1236+12del	XP_005267324.1:n.1236+6_1236+12del
XM_011536356.1:c.1236+6_1236+12del	XP_011534658.1:n.1236+6_1236+12del
XM_011536357.1:c.1185+6_1185+12del	XP_011534659.1:n.1185+6_1185+12del
XM_011536358.1:c.1017+6_1017+12del	XP_011534660.1:n.1017+6_1017+12del
XM_011536357.2:c.1185+6_1185+12del	XP_011534659.1:n.1185+6_1185+12del
XM_011536358.2:c.1017+6_1017+12del	XP_011534660.1:n.1017+6_1017+12del
XM_017020929.2:c.1017+6_1017+12del	XP_016876418.1:n.1017+6_1017+12del
NM_001384158.1:c.1308+6_1308+12del	NP_001371087.1:n.1308+6_1308+12del
NM_001384159.1:c.1236+6_1236+12del	NP_001371088.1:n.1236+6_1236+12del
NM_001384160.1:c.1185+6_1185+12del	NP_001371089.1:n.1185+6_1185+12del
NM_001384161.1:c.1017+6_1017+12del	NP_001371090.1:n.1017+6_1017+12del
NM_001384162.1:c.1017+6_1017+12del	NP_001371091.1:n.1017+6_1017+12del
NM_006329.4:c.1185+6_1185+12del MANE Select	NP_006320.2:n.1185+6_1185+12del