Canonical Allele Identifier: CA2628324309

Gene: FBN1

Linked Data

• gnomAD v4: 15-48409263-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48409266del , CM000677.2:g.48409266del	GRCh38
NC_000015.9:g.48701463del , CM000677.1:g.48701463del	GRCh37
NC_000015.8:g.46488755del	NCBI36
NG_008805.2:g.241525del , LRG_778:g.241525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682170.1:n.4523del
ENST00000682767.1:n.3639del
ENST00000316623.10:c.*1726del MANE Select	ENSP00000325527.5:n.*1726del
ENST00000316623.9:c.*1726del	ENSP00000325527.5:n.*1726del
NM_000138.4:c.*1726del , LRG_778t1:c.*1726del	NP_000129.3:n.*1726del
NM_000138.5:c.*1726del MANE Select	NP_000129.3:n.*1726del