Canonical Allele Identifier: CA2175520412

Gene: FBN1

Linked Data

• dbSNP Id: rs2043384081
• gnomAD v4: 15-48472471-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472471_48472472insG , CM000677.2:g.48472471_48472472insG	GRCh38
NC_000015.9:g.48764668_48764669insG , CM000677.1:g.48764668_48764669insG	GRCh37
NC_000015.8:g.46551960_46551961insG	NCBI36
NG_008805.2:g.178317_178318insC , LRG_778:g.178317_178318insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+79_4336+80insC	ENSP00000453958.2:n.4336+79_4336+80insC
ENST00000674301.2:c.4336+79_4336+80insC	ENSP00000501333.2:n.4336+79_4336+80insC
ENST00000683268.1:n.303+79_303+80insC
ENST00000684448.1:n.3010+79_3010+80insC
ENST00000316623.10:c.4336+79_4336+80insC MANE Select	ENSP00000325527.5:n.4336+79_4336+80insC
ENST00000316623.9:c.4336+79_4336+80insC	ENSP00000325527.5:n.4336+79_4336+80insC
ENST00000537463.6:c.*99+79_*99+80insC	ENSP00000440294.2:n.*99+79_*99+80insC
NM_000138.4:c.4336+79_4336+80insC , LRG_778t1:c.4336+79_4336+80insC	NP_000129.3:n.4336+79_4336+80insC
NM_000138.5:c.4336+79_4336+80insC MANE Select	NP_000129.3:n.4336+79_4336+80insC