Canonical Allele Identifier: CA2628331916

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428540-C-CTTCCTTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428548_48428555dup , CM000677.2:g.48428548_48428555dup	GRCh38
NC_000015.9:g.48720745_48720752dup , CM000677.1:g.48720745_48720752dup	GRCh37
NC_000015.8:g.46508037_46508044dup	NCBI36
NG_008805.2:g.222241_222248dup , LRG_778:g.222241_222248dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-77_6872-70dup	ENSP00000453958.2:n.6872-77_6872-70dup
ENST00000674301.2:c.*323-77_*323-70dup	ENSP00000501333.2:n.*323-77_*323-70dup
ENST00000682170.1:n.481-77_481-70dup
ENST00000682767.1:n.30_37dup
ENST00000316623.10:c.6872-77_6872-70dup MANE Select	ENSP00000325527.5:n.6872-77_6872-70dup
ENST00000674301.1:c.1976-77_1976-70dup	ENSP00000501333.1:n.1976-77_1976-70dup
ENST00000316623.9:c.6872-77_6872-70dup	ENSP00000325527.5:n.6872-77_6872-70dup
ENST00000559133.5:c.2179-77_2179-70dup
ENST00000560720.1:n.159-77_159-70dup
NM_000138.4:c.6872-77_6872-70dup , LRG_778t1:c.6872-77_6872-70dup	NP_000129.3:n.6872-77_6872-70dup
NM_000138.5:c.6872-77_6872-70dup MANE Select	NP_000129.3:n.6872-77_6872-70dup