Canonical Allele Identifier: CA2628338055

Gene: FBN1

Linked Data

• gnomAD v4: 15-48610840-AGAGGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610841_48610846del , CM000677.2:g.48610841_48610846del	GRCh38
NC_000015.9:g.48903038_48903043del , CM000677.1:g.48903038_48903043del	GRCh37
NC_000015.8:g.46690330_46690335del	NCBI36
NG_008805.2:g.39943_39948del , LRG_778:g.39943_39948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-20_248-15del	ENSP00000453958.2:n.248-20_248-15del
ENST00000674301.2:c.248-20_248-15del	ENSP00000501333.2:n.248-20_248-15del
ENST00000316623.10:c.248-20_248-15del MANE Select	ENSP00000325527.5:n.248-20_248-15del
ENST00000316623.9:c.248-20_248-15del	ENSP00000325527.5:n.248-20_248-15del
ENST00000537463.6:c.248-20_248-15del	ENSP00000440294.2:n.248-20_248-15del
NM_000138.4:c.248-20_248-15del , LRG_778t1:c.248-20_248-15del	NP_000129.3:n.248-20_248-15del
NM_000138.5:c.248-20_248-15del MANE Select	NP_000129.3:n.248-20_248-15del