Canonical Allele Identifier: CA304355

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200173
• ClinVar RCV Id: RCV000181677 ; RCV000664014
• dbSNP Id: rs794728321
• MyVariant Identifiers: chr15:g.48704838dupA (hg19) ; chr15:g.48704837_48704838insA (hg19) ; chr15:g.48412641dupA (hg38) ; chr15:g.48412640_48412641insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412641dup , CM000677.2:g.48412641dup	GRCh38
NC_000015.9:g.48704838dup , CM000677.1:g.48704838dup	GRCh37
NC_000015.8:g.46492130dup	NCBI36
NG_008805.2:g.238148dup , LRG_778:g.238148dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*962dup	ENSP00000453958.2:n.*962dup
ENST00000674301.2:c.*1667dup	ENSP00000501333.2:n.*1667dup
ENST00000682158.1:n.1535dup
ENST00000682170.1:n.2335dup
ENST00000682767.1:n.1451dup
ENST00000316623.10:c.8154dup MANE Select	ENSP00000325527.5:p.Lys2719Ter
ENST00000674301.1:c.3320dup	ENSP00000501333.1:n.3320dup
ENST00000316623.9:c.8154dup	ENSP00000325527.5:p.Lys2719Ter
ENST00000559133.5:c.3523dup
ENST00000561429.1:n.409dup
NM_000138.4:c.8154dup , LRG_778t1:c.8154dup	NP_000129.3:p.Lys2719Ter
NM_000138.5:c.8154dup MANE Select	NP_000129.3:p.Lys2719Ter