Canonical Allele Identifier: CA2573150950

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1444045
• ClinVar RCV Id: RCV001981603
• dbSNP Id: rs2141214637

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415578_48415579insTATTACCACACAGGTTACCGAGGGTG , CM000677.2:g.48415578_48415579insTATTACCACACAGGTTACCGAGGGTG	GRCh38
NC_000015.9:g.48707775_48707776insTATTACCACACAGGTTACCGAGGGTG , CM000677.1:g.48707775_48707776insTATTACCACACAGGTTACCGAGGGTG	GRCh37
NC_000015.8:g.46495067_46495068insTATTACCACACAGGTTACCGAGGGTG	NCBI36
NG_008805.2:g.235210_235211insCACCCTCGGTAACCTGTGTGGTAATA , LRG_778:g.235210_235211insCACCCTCGGTAACCTGTGTGGTAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*816_*817insCACCCTCGGTAACCTGTGTGGTAATA	ENSP00000453958.2:n.*816_*817insCACCCTCGGTAACCTGTGTGGTAATA
ENST00000674301.2:c.*1521_*1522insCACCCTCGGTAACCTGTGTGGTAATA	ENSP00000501333.2:n.*1521_*1522insCACCCTCGGTAACCTGTGTGGTAATA
ENST00000682158.1:n.1389_1390insCACCCTCGGTAACCTGTGTGGTAATA
ENST00000682170.1:n.2189_2190insCACCCTCGGTAACCTGTGTGGTAATA
ENST00000682767.1:n.1305_1306insCACCCTCGGTAACCTGTGTGGTAATA
ENST00000316623.10:c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA MANE Select	ENSP00000325527.5:p.Tyr2670SerfsTer21
ENST00000674301.1:c.3174_3175insCACCCTCGGTAACCTGTGTGGTAATA	ENSP00000501333.1:n.3174_3175insCACCCTCGGTAACCTGTGTGGTAATA
ENST00000316623.9:c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA	ENSP00000325527.5:p.Tyr2670SerfsTer21
ENST00000559133.5:c.3377_3378insCACCCTCGGTAACCTGTGTGGTAATA
ENST00000561429.1:n.263_264insCACCCTCGGTAACCTGTGTGGTAATA
NM_000138.4:c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA , LRG_778t1:c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA	NP_000129.3:p.Tyr2670SerfsTer21
NM_000138.5:c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA MANE Select	NP_000129.3:p.Tyr2670SerfsTer21