Canonical Allele Identifier: CA2175465193

Gene: FBN1

Linked Data

• dbSNP Id: rs2042950605
• gnomAD v3: 15-48422337-A-AG
• gnomAD v4: 15-48422337-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422337_48422338insG , CM000677.2:g.48422337_48422338insG	GRCh38
NC_000015.9:g.48714534_48714535insG , CM000677.1:g.48714534_48714535insG	GRCh37
NC_000015.8:g.46501826_46501827insG	NCBI36
NG_008805.2:g.228451_228452insC , LRG_778:g.228451_228452insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-270_*262-269insC	ENSP00000453958.2:n.*262-270_*262-269insC
ENST00000674301.2:c.*967-270_*967-269insC	ENSP00000501333.2:n.*967-270_*967-269insC
ENST00000682170.1:n.1635-270_1635-269insC
ENST00000682767.1:n.751-270_751-269insC
ENST00000316623.10:c.7454-270_7454-269insC MANE Select	ENSP00000325527.5:n.7454-270_7454-269insC
ENST00000674301.1:c.2620-270_2620-269insC	ENSP00000501333.1:n.2620-270_2620-269insC
ENST00000316623.9:c.7454-270_7454-269insC	ENSP00000325527.5:n.7454-270_7454-269insC
ENST00000559133.5:c.2823-270_2823-269insC
NM_000138.4:c.7454-270_7454-269insC , LRG_778t1:c.7454-270_7454-269insC	NP_000129.3:n.7454-270_7454-269insC
NM_000138.5:c.7454-270_7454-269insC MANE Select	NP_000129.3:n.7454-270_7454-269insC