Canonical Allele Identifier: CA2628347977

Gene: FBN1

Linked Data

• gnomAD v4: 15-48448897-T-TCCTGTGGAGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448897_48448898insCCTGTGGAGGTG , CM000677.2:g.48448897_48448898insCCTGTGGAGGTG	GRCh38
NC_000015.9:g.48741094_48741095insCCTGTGGAGGTG , CM000677.1:g.48741094_48741095insCCTGTGGAGGTG	GRCh37
NC_000015.8:g.46528386_46528387insCCTGTGGAGGTG	NCBI36
NG_008805.2:g.201891_201892insCACCTCCACAGG , LRG_778:g.201891_201892insCACCTCCACAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-5_5546-4insCACCTCCACAGG	ENSP00000453958.2:n.5546-5_5546-4insCACCTCCACAGG
ENST00000674301.2:c.5546-5_5546-4insCACCTCCACAGG	ENSP00000501333.2:n.5546-5_5546-4insCACCTCCACAGG
ENST00000684448.1:n.4220-5_4220-4insCACCTCCACAGG
ENST00000316623.10:c.5546-5_5546-4insCACCTCCACAGG MANE Select	ENSP00000325527.5:n.5546-5_5546-4insCACCTCCACAGG
ENST00000674301.1:c.545-5_545-4insCACCTCCACAGG	ENSP00000501333.1:n.545-5_545-4insCACCTCCACAGG
ENST00000316623.9:c.5546-5_5546-4insCACCTCCACAGG	ENSP00000325527.5:n.5546-5_5546-4insCACCTCCACAGG
ENST00000537463.6:c.*1309-5_*1309-4insCACCTCCACAGG	ENSP00000440294.2:n.*1309-5_*1309-4insCACCTCCACAGG
ENST00000559133.5:c.853-5_853-4insCACCTCCACAGG
NM_000138.4:c.5546-5_5546-4insCACCTCCACAGG , LRG_778t1:c.5546-5_5546-4insCACCTCCACAGG	NP_000129.3:n.5546-5_5546-4insCACCTCCACAGG
NM_000138.5:c.5546-5_5546-4insCACCTCCACAGG MANE Select	NP_000129.3:n.5546-5_5546-4insCACCTCCACAGG