Canonical Allele Identifier: CA2628330251

Gene: FBN1

Linked Data

• gnomAD v4: 15-48487513-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487514_48487515del , CM000677.2:g.48487514_48487515del	GRCh38
NC_000015.9:g.48779711_48779712del , CM000677.1:g.48779711_48779712del	GRCh37
NC_000015.8:g.46567003_46567004del	NCBI36
NG_008805.2:g.163274_163275del , LRG_778:g.163274_163275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-78_3338-77del	ENSP00000453958.2:n.3338-78_3338-77del
ENST00000674301.2:c.3338-78_3338-77del	ENSP00000501333.2:n.3338-78_3338-77del
ENST00000684448.1:n.2012-78_2012-77del
ENST00000316623.10:c.3338-78_3338-77del MANE Select	ENSP00000325527.5:n.3338-78_3338-77del
ENST00000316623.9:c.3338-78_3338-77del	ENSP00000325527.5:n.3338-78_3338-77del
ENST00000537463.6:c.637-12865_637-12864del	ENSP00000440294.2:n.637-12865_637-12864del
NM_000138.4:c.3338-78_3338-77del , LRG_778t1:c.3338-78_3338-77del	NP_000129.3:n.3338-78_3338-77del
NM_000138.5:c.3338-78_3338-77del MANE Select	NP_000129.3:n.3338-78_3338-77del