Canonical Allele Identifier: CA2580089602

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2442984
• ClinVar RCV Id: RCV003150790
• gnomAD v4: 15-48503943-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48503945_48503946del , CM000677.2:g.48503945_48503946del	GRCh38
NC_000015.9:g.48796142_48796143del , CM000677.1:g.48796142_48796143del	GRCh37
NC_000015.8:g.46583434_46583435del	NCBI36
NG_008805.2:g.146844_146845del , LRG_778:g.146844_146845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1961-6_1961-5del	ENSP00000453958.2:n.1961-6_1961-5del
ENST00000674301.2:c.1961-6_1961-5del	ENSP00000501333.2:n.1961-6_1961-5del
ENST00000684448.1:n.635-6_635-5del
ENST00000316623.10:c.1961-6_1961-5del MANE Select	ENSP00000325527.5:n.1961-6_1961-5del
ENST00000316623.9:c.1961-6_1961-5del	ENSP00000325527.5:n.1961-6_1961-5del
ENST00000537463.6:c.637-29295_637-29294del	ENSP00000440294.2:n.637-29295_637-29294del
NM_000138.4:c.1961-6_1961-5del , LRG_778t1:c.1961-6_1961-5del	NP_000129.3:n.1961-6_1961-5del
NM_000138.5:c.1961-6_1961-5del MANE Select	NP_000129.3:n.1961-6_1961-5del