Canonical Allele Identifier: CA915945986

Gene: FBN1

Linked Data

• ClinVar Variation Id: 803083
• ClinVar RCV Id: RCV000989316
• dbSNP Id: rs1597533713

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446819_48446820del , CM000677.2:g.48446819_48446820del	GRCh38
NC_000015.9:g.48739016_48739017del , CM000677.1:g.48739016_48739017del	GRCh37
NC_000015.8:g.46526308_46526309del	NCBI36
NG_008805.2:g.203970_203971del , LRG_778:g.203970_203971del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.5675_5676del	ENSP00000453958.2:p.Ile1892LysfsTer2
ENST00000674301.2:c.5675_5676del	ENSP00000501333.2:p.Ile1892LysfsTer2
ENST00000684448.1:n.4349_4350del
ENST00000316623.10:c.5675_5676del MANE Select	ENSP00000325527.5:p.Ile1892LysfsTer2
ENST00000674301.1:c.674_675del	ENSP00000501333.1:p.Ile225LysfsTer2
ENST00000316623.9:c.5675_5676del	ENSP00000325527.5:p.Ile1892LysfsTer2
ENST00000537463.6:c.*1438_*1439del	ENSP00000440294.2:n.*1438_*1439del
ENST00000559133.5:c.982_983del
NM_000138.4:c.5675_5676del , LRG_778t1:c.5675_5676del	NP_000129.3:p.Ile1892LysfsTer2
NM_000138.5:c.5675_5676del MANE Select	NP_000129.3:p.Ile1892LysfsTer2