Canonical Allele Identifier: CA919548707

Gene: FBN1

Linked Data

• dbSNP Id: rs1555398841

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490087_48490088delinsA , CM000677.2:g.48490087_48490088delinsA	GRCh38
NC_000015.9:g.48782284_48782285delinsA , CM000677.1:g.48782284_48782285delinsA	GRCh37
NC_000015.8:g.46569576_46569577delinsA	NCBI36
NG_008805.2:g.160701_160702delinsT , LRG_778:g.160701_160702delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-10_2855-9delinsT	ENSP00000453958.2:n.2855-10_2855-9delinsT
ENST00000674301.2:c.2855-10_2855-9delinsT	ENSP00000501333.2:n.2855-10_2855-9delinsT
ENST00000684448.1:n.1529-10_1529-9delinsT
ENST00000316623.10:c.2855-10_2855-9delinsT MANE Select	ENSP00000325527.5:n.2855-10_2855-9delinsT
ENST00000316623.9:c.2855-10_2855-9delinsT	ENSP00000325527.5:n.2855-10_2855-9delinsT
ENST00000537463.6:c.637-15438_637-15437delinsT	ENSP00000440294.2:n.637-15438_637-15437delinsT
NM_000138.4:c.2855-10_2855-9delinsT , LRG_778t1:c.2855-10_2855-9delinsT	NP_000129.3:n.2855-10_2855-9delinsT
NM_000138.5:c.2855-10_2855-9delinsT MANE Select	NP_000129.3:n.2855-10_2855-9delinsT