Canonical Allele Identifier: CA658824941

Gene: FBN1

Linked Data

• ClinVar Variation Id: 547336
• ClinVar RCV Id: RCV000659560
• dbSNP Id: rs1555395480
• MyVariant Identifiers: chr15:g.48734001del (hg19) ; chr15:g.48441804del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441806del , CM000677.2:g.48441806del	GRCh38
NC_000015.9:g.48734003del , CM000677.1:g.48734003del	GRCh37
NC_000015.8:g.46521295del	NCBI36
NG_008805.2:g.208985del , LRG_778:g.208985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6080del	ENSP00000453958.2:p.Gly2027AlafsTer?
ENST00000674301.2:c.6080del	ENSP00000501333.2:p.Gly2027AlafsTer?
ENST00000316623.10:c.6080del MANE Select	ENSP00000325527.5:p.Gly2027AlafsTer?
ENST00000674301.1:c.1079del	ENSP00000501333.1:p.Gly360AlafsTer?
ENST00000316623.9:c.6080del	ENSP00000325527.5:p.Gly2027AlafsTer?
ENST00000537463.6:c.*1843del	ENSP00000440294.2:n.*1843del
ENST00000559133.5:c.1387del
ENST00000560820.1:n.200del
NM_000138.4:c.6080del , LRG_778t1:c.6080del	NP_000129.3:p.Gly2027AlafsTer?
NM_000138.5:c.6080del MANE Select	NP_000129.3:p.Gly2027AlafsTer?