Canonical Allele Identifier: CA269521726

Gene: FBN1

Linked Data

• dbSNP Id: rs934543018
• gnomAD v3: 15-48428161-T-TTTAGCTGCAGGG
• gnomAD v4: 15-48428161-T-TTTAGCTGCAGGG
• MyVariant Identifiers: chr15:g.48720358_48720359insTTAGCTGCAGGG (hg19) ; chr15:g.48428161_48428162insTTAGCTGCAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428163_48428174dup , CM000677.2:g.48428163_48428174dup	GRCh38
NC_000015.9:g.48720360_48720371dup , CM000677.1:g.48720360_48720371dup	GRCh37
NC_000015.8:g.46507652_46507663dup	NCBI36
NG_008805.2:g.222616_222627dup , LRG_778:g.222616_222627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6997+173_6997+184dup	ENSP00000453958.2:n.6997+173_6997+184dup
ENST00000674301.2:c.*448+173_*448+184dup	ENSP00000501333.2:n.*448+173_*448+184dup
ENST00000682170.1:n.779_790dup
ENST00000682767.1:n.232+173_232+184dup
ENST00000316623.10:c.6997+173_6997+184dup MANE Select	ENSP00000325527.5:n.6997+173_6997+184dup
ENST00000674301.1:c.2101+173_2101+184dup	ENSP00000501333.1:n.2101+173_2101+184dup
ENST00000316623.9:c.6997+173_6997+184dup	ENSP00000325527.5:n.6997+173_6997+184dup
ENST00000559133.5:c.2304+173_2304+184dup
ENST00000560720.1:n.457_468dup
NM_000138.4:c.6997+173_6997+184dup , LRG_778t1:c.6997+173_6997+184dup	NP_000129.3:n.6997+173_6997+184dup
NM_000138.5:c.6997+173_6997+184dup MANE Select	NP_000129.3:n.6997+173_6997+184dup