Canonical Allele Identifier: CA658824457

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549106
• ClinVar RCV Id: RCV000663573
• dbSNP Id: rs1555399093
• MyVariant Identifiers: chr15:g.48786430_48786431insCC (hg19) ; chr15:g.48494233_48494234insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48494233_48494234insCC , CM000677.2:g.48494233_48494234insCC	GRCh38
NC_000015.9:g.48786430_48786431insCC , CM000677.1:g.48786430_48786431insCC	GRCh37
NC_000015.8:g.46573722_46573723insCC	NCBI36
NG_008805.2:g.156555_156556insGG , LRG_778:g.156555_156556insGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.2698_2699insGG	ENSP00000453958.2:p.Tyr900TrpfsTer13
ENST00000674301.2:c.2698_2699insGG	ENSP00000501333.2:p.Tyr900TrpfsTer13
ENST00000684448.1:n.1372_1373insGG
ENST00000316623.10:c.2698_2699insGG MANE Select	ENSP00000325527.5:p.Tyr900TrpfsTer13
ENST00000316623.9:c.2698_2699insGG	ENSP00000325527.5:p.Tyr900TrpfsTer13
ENST00000537463.6:c.637-19584_637-19583insGG	ENSP00000440294.2:n.637-19584_637-19583insGG
NM_000138.4:c.2698_2699insGG , LRG_778t1:c.2698_2699insGG	NP_000129.3:p.Tyr900TrpfsTer13
NM_000138.5:c.2698_2699insGG MANE Select	NP_000129.3:p.Tyr900TrpfsTer13