Canonical Allele Identifier: CA2628329848

Gene: FBN1

Linked Data

• gnomAD v4: 15-48422121-G-GCTTCCCTGATCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48422121_48422122insCTTCCCTGATCCT , CM000677.2:g.48422121_48422122insCTTCCCTGATCCT	GRCh38
NC_000015.9:g.48714318_48714319insCTTCCCTGATCCT , CM000677.1:g.48714318_48714319insCTTCCCTGATCCT	GRCh37
NC_000015.8:g.46501610_46501611insCTTCCCTGATCCT	NCBI36
NG_008805.2:g.228667_228668insAGGATCAGGGAAG , LRG_778:g.228667_228668insAGGATCAGGGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*262-54_*262-53insAGGATCAGGGAAG	ENSP00000453958.2:n.*262-54_*262-53insAGGATCAGGGAAG
ENST00000674301.2:c.*967-54_*967-53insAGGATCAGGGAAG	ENSP00000501333.2:n.*967-54_*967-53insAGGATCAGGGAAG
ENST00000682170.1:n.1635-54_1635-53insAGGATCAGGGAAG
ENST00000682767.1:n.751-54_751-53insAGGATCAGGGAAG
ENST00000316623.10:c.7454-54_7454-53insAGGATCAGGGAAG MANE Select	ENSP00000325527.5:n.7454-54_7454-53insAGGATCAGGGAAG
ENST00000674301.1:c.2620-54_2620-53insAGGATCAGGGAAG	ENSP00000501333.1:n.2620-54_2620-53insAGGATCAGGGAAG
ENST00000316623.9:c.7454-54_7454-53insAGGATCAGGGAAG	ENSP00000325527.5:n.7454-54_7454-53insAGGATCAGGGAAG
ENST00000559133.5:c.2823-54_2823-53insAGGATCAGGGAAG
NM_000138.4:c.7454-54_7454-53insAGGATCAGGGAAG , LRG_778t1:c.7454-54_7454-53insAGGATCAGGGAAG	NP_000129.3:n.7454-54_7454-53insAGGATCAGGGAAG
NM_000138.5:c.7454-54_7454-53insAGGATCAGGGAAG MANE Select	NP_000129.3:n.7454-54_7454-53insAGGATCAGGGAAG