Canonical Allele Identifier: CA2628331625

Gene: FBN1

Linked Data

• gnomAD v4: 15-48490189-T-TAATTCCAGTCAATAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490189_48490190insAATTCCAGTCAATAAG , CM000677.2:g.48490189_48490190insAATTCCAGTCAATAAG	GRCh38
NC_000015.9:g.48782386_48782387insAATTCCAGTCAATAAG , CM000677.1:g.48782386_48782387insAATTCCAGTCAATAAG	GRCh37
NC_000015.8:g.46569678_46569679insAATTCCAGTCAATAAG	NCBI36
NG_008805.2:g.160599_160600insCTTATTGACTGGAATT , LRG_778:g.160599_160600insCTTATTGACTGGAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-112_2855-111insCTTATTGACTGGAATT	ENSP00000453958.2:n.2855-112_2855-111insCTTATTGACTGGAATT
ENST00000674301.2:c.2855-112_2855-111insCTTATTGACTGGAATT	ENSP00000501333.2:n.2855-112_2855-111insCTTATTGACTGGAATT
ENST00000684448.1:n.1529-112_1529-111insCTTATTGACTGGAATT
ENST00000316623.10:c.2855-112_2855-111insCTTATTGACTGGAATT MANE Select	ENSP00000325527.5:n.2855-112_2855-111insCTTATTGACTGGAATT
ENST00000316623.9:c.2855-112_2855-111insCTTATTGACTGGAATT	ENSP00000325527.5:n.2855-112_2855-111insCTTATTGACTGGAATT
ENST00000537463.6:c.637-15540_637-15539insCTTATTGACTGGAATT	ENSP00000440294.2:n.637-15540_637-15539insCTTATTGACTGGAATT
NM_000138.4:c.2855-112_2855-111insCTTATTGACTGGAATT , LRG_778t1:c.2855-112_2855-111insCTTATTGACTGGAATT	NP_000129.3:n.2855-112_2855-111insCTTATTGACTGGAATT
NM_000138.5:c.2855-112_2855-111insCTTATTGACTGGAATT MANE Select	NP_000129.3:n.2855-112_2855-111insCTTATTGACTGGAATT