Canonical Allele Identifier: CA658798373

Gene: FBN1

Linked Data

• ClinVar Variation Id: 519738
• ClinVar RCV Id: RCV002314333
• dbSNP Id: rs1555398828
• MyVariant Identifiers: chr15:g.48782230_48782231dup (hg19) ; chr15:g.48490033_48490034dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490034_48490035dup , CM000677.2:g.48490034_48490035dup	GRCh38
NC_000015.9:g.48782231_48782232dup , CM000677.1:g.48782231_48782232dup	GRCh37
NC_000015.8:g.46569523_46569524dup	NCBI36
NG_008805.2:g.160755_160756dup , LRG_778:g.160755_160756dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2899_2900dup	ENSP00000453958.2:p.Thr968AlafsTer?
ENST00000674301.2:c.2899_2900dup	ENSP00000501333.2:p.Thr968AlafsTer?
ENST00000684448.1:n.1573_1574dup
ENST00000316623.10:c.2899_2900dup MANE Select	ENSP00000325527.5:p.Thr968AlafsTer?
ENST00000316623.9:c.2899_2900dup	ENSP00000325527.5:p.Thr968AlafsTer?
ENST00000537463.6:c.637-15384_637-15383dup	ENSP00000440294.2:n.637-15384_637-15383dup
NM_000138.4:c.2899_2900dup , LRG_778t1:c.2899_2900dup	NP_000129.3:p.Thr968AlafsTer?
NM_000138.5:c.2899_2900dup MANE Select	NP_000129.3:p.Thr968AlafsTer?