Canonical Allele Identifier: CA2573054040

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1302935
• ClinVar RCV Id: RCV001756434
• dbSNP Id: rs2141293349

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487204_48487205delinsCT , CM000677.2:g.48487204_48487205delinsCT	GRCh38
NC_000015.9:g.48779401_48779402delinsCT , CM000677.1:g.48779401_48779402delinsCT	GRCh37
NC_000015.8:g.46566693_46566694delinsCT	NCBI36
NG_008805.2:g.163584_163585delinsAG , LRG_778:g.163584_163585delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3464-5_3464-4delinsAG	ENSP00000453958.2:n.3464-5_3464-4delinsAG
ENST00000674301.2:c.3464-5_3464-4delinsAG	ENSP00000501333.2:n.3464-5_3464-4delinsAG
ENST00000684448.1:n.2138-5_2138-4delinsAG
ENST00000316623.10:c.3464-5_3464-4delinsAG MANE Select	ENSP00000325527.5:n.3464-5_3464-4delinsAG
ENST00000316623.9:c.3464-5_3464-4delinsAG	ENSP00000325527.5:n.3464-5_3464-4delinsAG
ENST00000537463.6:c.637-12555_637-12554delinsAG	ENSP00000440294.2:n.637-12555_637-12554delinsAG
NM_000138.4:c.3464-5_3464-4delinsAG , LRG_778t1:c.3464-5_3464-4delinsAG	NP_000129.3:n.3464-5_3464-4delinsAG
NM_000138.5:c.3464-5_3464-4delinsAG MANE Select	NP_000129.3:n.3464-5_3464-4delinsAG