Canonical Allele Identifier: CA2626161045

Gene: FBLN5

Linked Data

• gnomAD v4: 14-91877382-TGTCCCCCAGCCCCACTCTTACCTGCTTGCATACAGCACGTTCCTAGGAGAGACAGCACAAGGCCACTGTTACAGATGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877389_91877467del , CM000676.2:g.91877389_91877467del	GRCh38
NC_000014.8:g.92343733_92343811del , CM000676.1:g.92343733_92343811del	GRCh37
NC_000014.7:g.91413486_91413564del	NCBI36
NG_008254.1:g.75242_75320del , LRG_364:g.75242_75320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*1151+26_*1151+104del	ENSP00000451002.1:n.*1151+26_*1151+104del
ENST00000557570.2:c.1017+26_1017+104del	ENSP00000450787.2:n.1017+26_1017+104del
ENST00000706675.1:n.1000+26_1000+104del
ENST00000706676.1:c.1359+26_1359+104del	ENSP00000516492.1:n.1359+26_1359+104del
ENST00000706677.1:c.1185+26_1185+104del	ENSP00000516493.1:n.1185+26_1185+104del
ENST00000706678.1:n.1105+26_1105+104del
ENST00000706679.1:c.1017+26_1017+104del	ENSP00000516494.1:n.1017+26_1017+104del
ENST00000706680.1:c.*1028+26_*1028+104del	ENSP00000516495.1:n.*1028+26_*1028+104del
ENST00000706681.1:c.*924+26_*924+104del	ENSP00000516496.1:n.*924+26_*924+104del
ENST00000342058.9:c.1185+26_1185+104del MANE Select	ENSP00000345008.4:n.1185+26_1185+104del
ENST00000267620.14:c.1308+26_1308+104del	ENSP00000267620.10:n.1308+26_1308+104del
ENST00000342058.8:c.1185+26_1185+104del	ENSP00000345008.4:n.1185+26_1185+104del
ENST00000554121.2:n.311+26_311+104del
ENST00000556154.5:c.1200+26_1200+104del	ENSP00000451982.1:n.1200+26_1200+104del
NM_006329.3:c.1185+26_1185+104del , LRG_364t1:c.1185+26_1185+104del	NP_006320.2:n.1185+26_1185+104del
XM_005267267.3:c.1236+26_1236+104del	XP_005267324.1:n.1236+26_1236+104del
XM_011536356.1:c.1236+26_1236+104del	XP_011534658.1:n.1236+26_1236+104del
XM_011536357.1:c.1185+26_1185+104del	XP_011534659.1:n.1185+26_1185+104del
XM_011536358.1:c.1017+26_1017+104del	XP_011534660.1:n.1017+26_1017+104del
XM_011536357.2:c.1185+26_1185+104del	XP_011534659.1:n.1185+26_1185+104del
XM_011536358.2:c.1017+26_1017+104del	XP_011534660.1:n.1017+26_1017+104del
XM_017020929.2:c.1017+26_1017+104del	XP_016876418.1:n.1017+26_1017+104del
NM_001384158.1:c.1308+26_1308+104del	NP_001371087.1:n.1308+26_1308+104del
NM_001384159.1:c.1236+26_1236+104del	NP_001371088.1:n.1236+26_1236+104del
NM_001384160.1:c.1185+26_1185+104del	NP_001371089.1:n.1185+26_1185+104del
NM_001384161.1:c.1017+26_1017+104del	NP_001371090.1:n.1017+26_1017+104del
NM_001384162.1:c.1017+26_1017+104del	NP_001371091.1:n.1017+26_1017+104del
NM_006329.4:c.1185+26_1185+104del MANE Select	NP_006320.2:n.1185+26_1185+104del