Canonical Allele Identifier: CA891844490

Gene: FBN1

Linked Data

• dbSNP Id: rs1566898852

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48446820_48446824delinsAGTCA , CM000677.2:g.48446820_48446824delinsAGTCA	GRCh38
NC_000015.9:g.48739017_48739021delinsAGTCA , CM000677.1:g.48739017_48739021delinsAGTCA	GRCh37
NC_000015.8:g.46526309_46526313delinsAGTCA	NCBI36
NG_008805.2:g.203965_203969delinsTGACT , LRG_778:g.203965_203969delinsTGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5672-2_5674delinsTGACT
ENST00000674301.2:c.5672-2_5674delinsTGACT
ENST00000684448.1:n.4346-2_4348delinsTGACT
ENST00000316623.10:c.5672-2_5674delinsTGACT
ENST00000674301.1:c.671-2_673delinsTGACT
ENST00000316623.9:c.5672-2_5674delinsTGACT
ENST00000537463.6:c.*1435-2_*1437delinsTGACT
ENST00000559133.5:c.979-2_981delinsTGACT
NM_000138.4:c.5672-2_5674delinsTGACT , LRG_778t1:c.5672-2_5674delinsTGACT
NM_000138.5:c.5672-2_5674delinsTGACT