Canonical Allele Identifier: CA658824314

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549244
• ClinVar RCV Id: RCV000663742
• dbSNP Id: rs1555397160
• MyVariant Identifiers: chr15:g.48760214_48760217del (hg19) ; chr15:g.48468017_48468020del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48468019_48468022del , CM000677.2:g.48468019_48468022del	GRCh38
NC_000015.9:g.48760216_48760219del , CM000677.1:g.48760216_48760219del	GRCh37
NC_000015.8:g.46547508_46547511del	NCBI36
NG_008805.2:g.182769_182772del , LRG_778:g.182769_182772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4665_4668del	ENSP00000453958.2:p.Gly1556PhefsTer24
ENST00000674301.2:c.4665_4668del	ENSP00000501333.2:p.Gly1556PhefsTer24
ENST00000684448.1:n.3339_3342del
ENST00000316623.10:c.4665_4668del MANE Select	ENSP00000325527.5:p.Gly1556PhefsTer24
ENST00000316623.9:c.4665_4668del	ENSP00000325527.5:p.Gly1556PhefsTer24
ENST00000537463.6:c.*428_*431del	ENSP00000440294.2:n.*428_*431del
NM_000138.4:c.4665_4668del , LRG_778t1:c.4665_4668del	NP_000129.3:p.Gly1556PhefsTer24
NM_000138.5:c.4665_4668del MANE Select	NP_000129.3:p.Gly1556PhefsTer24