Canonical Allele Identifier: CA658824320

Gene: FBN1

Linked Data

• ClinVar Variation Id: 549220
• ClinVar RCV Id: RCV000663713
• dbSNP Id: rs1555397536
• MyVariant Identifiers: chr15:g.48764782_48764783insCT (hg19) ; chr15:g.48472585_48472586insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472586_48472587insTC , CM000677.2:g.48472586_48472587insTC	GRCh38
NC_000015.9:g.48764783_48764784insTC , CM000677.1:g.48764783_48764784insTC	GRCh37
NC_000015.8:g.46552075_46552076insTC	NCBI36
NG_008805.2:g.178203_178204insAG , LRG_778:g.178203_178204insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4301_4302insAG	ENSP00000453958.2:p.Phe1435AlafsTer?
ENST00000674301.2:c.4301_4302insAG	ENSP00000501333.2:p.Phe1435AlafsTer?
ENST00000683268.1:n.268_269insAG
ENST00000684448.1:n.2975_2976insAG
ENST00000316623.10:c.4301_4302insAG MANE Select	ENSP00000325527.5:p.Phe1435AlafsTer?
ENST00000316623.9:c.4301_4302insAG	ENSP00000325527.5:p.Phe1435AlafsTer?
ENST00000537463.6:c.*64_*65insAG	ENSP00000440294.2:n.*64_*65insAG
NM_000138.4:c.4301_4302insAG , LRG_778t1:c.4301_4302insAG	NP_000129.3:p.Phe1435AlafsTer?
NM_000138.5:c.4301_4302insAG MANE Select	NP_000129.3:p.Phe1435AlafsTer?