Canonical Allele Identifier: CA2628338086

Gene: FBN1

Linked Data

• gnomAD v4: 15-48610904-AAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610905_48610907del , CM000677.2:g.48610905_48610907del	GRCh38
NC_000015.9:g.48903102_48903104del , CM000677.1:g.48903102_48903104del	GRCh37
NC_000015.8:g.46690394_46690396del	NCBI36
NG_008805.2:g.39882_39884del , LRG_778:g.39882_39884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-81_248-79del	ENSP00000453958.2:n.248-81_248-79del
ENST00000674301.2:c.248-81_248-79del	ENSP00000501333.2:n.248-81_248-79del
ENST00000316623.10:c.248-81_248-79del MANE Select	ENSP00000325527.5:n.248-81_248-79del
ENST00000316623.9:c.248-81_248-79del	ENSP00000325527.5:n.248-81_248-79del
ENST00000537463.6:c.248-81_248-79del	ENSP00000440294.2:n.248-81_248-79del
NM_000138.4:c.248-81_248-79del , LRG_778t1:c.248-81_248-79del	NP_000129.3:n.248-81_248-79del
NM_000138.5:c.248-81_248-79del MANE Select	NP_000129.3:n.248-81_248-79del