Canonical Allele Identifier: CA2628336751

Gene: FBN1

Linked Data

• gnomAD v4: 15-48520967-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48520967_48520968insC , CM000677.2:g.48520967_48520968insC	GRCh38
NC_000015.9:g.48813164_48813165insC , CM000677.1:g.48813164_48813165insC	GRCh37
NC_000015.8:g.46600456_46600457insC	NCBI36
NG_008805.2:g.129821_129822insG , LRG_778:g.129821_129822insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.989-151_989-150insG	ENSP00000453958.2:n.989-151_989-150insG
ENST00000674301.2:c.989-151_989-150insG	ENSP00000501333.2:n.989-151_989-150insG
ENST00000316623.10:c.989-151_989-150insG MANE Select	ENSP00000325527.5:n.989-151_989-150insG
ENST00000316623.9:c.989-151_989-150insG	ENSP00000325527.5:n.989-151_989-150insG
ENST00000537463.6:c.636+16743_636+16744insG	ENSP00000440294.2:n.636+16743_636+16744insG
NM_000138.4:c.989-151_989-150insG , LRG_778t1:c.989-151_989-150insG	NP_000129.3:n.989-151_989-150insG
NM_000138.5:c.989-151_989-150insG MANE Select	NP_000129.3:n.989-151_989-150insG