Canonical Allele Identifier: CA2628332157

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428616-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428620_48428621dup , CM000677.2:g.48428620_48428621dup	GRCh38
NC_000015.9:g.48720817_48720818dup , CM000677.1:g.48720817_48720818dup	GRCh37
NC_000015.8:g.46508109_46508110dup	NCBI36
NG_008805.2:g.222171_222172dup , LRG_778:g.222171_222172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-147_6872-146dup	ENSP00000453958.2:n.6872-147_6872-146dup
ENST00000674301.2:c.*323-147_*323-146dup	ENSP00000501333.2:n.*323-147_*323-146dup
ENST00000682170.1:n.481-147_481-146dup
ENST00000316623.10:c.6872-147_6872-146dup MANE Select	ENSP00000325527.5:n.6872-147_6872-146dup
ENST00000674301.1:c.1976-147_1976-146dup	ENSP00000501333.1:n.1976-147_1976-146dup
ENST00000316623.9:c.6872-147_6872-146dup	ENSP00000325527.5:n.6872-147_6872-146dup
ENST00000559133.5:c.2179-147_2179-146dup
ENST00000560720.1:n.159-147_159-146dup
NM_000138.4:c.6872-147_6872-146dup , LRG_778t1:c.6872-147_6872-146dup	NP_000129.3:n.6872-147_6872-146dup
NM_000138.5:c.6872-147_6872-146dup MANE Select	NP_000129.3:n.6872-147_6872-146dup