Canonical Allele Identifier: CA709914142

Gene: FBLN5

Linked Data

• dbSNP Id: rs1203115409
• MyVariant Identifiers: chr14:g.92344012del (hg19) ; chr14:g.91877668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91877669del , CM000676.2:g.91877669del	GRCh38
NC_000014.8:g.92344013del , CM000676.1:g.92344013del	GRCh37
NC_000014.7:g.91413766del	NCBI36
NG_008254.1:g.75035del , LRG_364:g.75035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557088.6:c.*970del	ENSP00000451002.1:n.*970del
ENST00000557570.2:c.836del	ENSP00000450787.2:p.Pro279LeufsTer?
ENST00000706675.1:n.819del
ENST00000706676.1:c.1178del	ENSP00000516492.1:p.Pro393LeufsTer?
ENST00000706677.1:c.1004del	ENSP00000516493.1:p.Pro335LeufsTer?
ENST00000706678.1:n.924del
ENST00000706679.1:c.836del	ENSP00000516494.1:p.Pro279LeufsTer?
ENST00000706680.1:c.*847del	ENSP00000516495.1:n.*847del
ENST00000706681.1:c.*743del	ENSP00000516496.1:n.*743del
ENST00000342058.9:c.1004del MANE Select	ENSP00000345008.4:p.Pro335LeufsTer?
ENST00000267620.14:c.1127del	ENSP00000267620.10:p.Pro376LeufsTer?
ENST00000342058.8:c.1004del	ENSP00000345008.4:p.Pro335LeufsTer?
ENST00000554121.2:n.130del
ENST00000556154.5:c.1019del	ENSP00000451982.1:p.Pro340LeufsTer?
NM_006329.3:c.1004del , LRG_364t1:c.1004del	NP_006320.2:p.Pro335LeufsTer?
XM_005267267.3:c.1055del	XP_005267324.1:p.Pro352LeufsTer?
XM_011536356.1:c.1055del	XP_011534658.1:p.Pro352LeufsTer?
XM_011536357.1:c.1004del	XP_011534659.1:p.Pro335LeufsTer?
XM_011536358.1:c.836del	XP_011534660.1:p.Pro279LeufsTer?
XM_011536357.2:c.1004del	XP_011534659.1:p.Pro335LeufsTer?
XM_011536358.2:c.836del	XP_011534660.1:p.Pro279LeufsTer?
XM_017020929.2:c.836del	XP_016876418.1:p.Pro279LeufsTer?
NM_001384158.1:c.1127del	NP_001371087.1:p.Pro376LeufsTer?
NM_001384159.1:c.1055del	NP_001371088.1:p.Pro352LeufsTer?
NM_001384160.1:c.1004del	NP_001371089.1:p.Pro335LeufsTer?
NM_001384161.1:c.836del	NP_001371090.1:p.Pro279LeufsTer?
NM_001384162.1:c.836del	NP_001371091.1:p.Pro279LeufsTer?
NM_006329.4:c.1004del MANE Select	NP_006320.2:p.Pro335LeufsTer?