Canonical Allele Identifier: CA2730862917

Gene: FBN1

Linked Data

• dbSNP Id: rs2141295001

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488307_48488312del , CM000677.2:g.48488307_48488312del	GRCh38
NC_000015.9:g.48780504_48780509del , CM000677.1:g.48780504_48780509del	GRCh37
NC_000015.8:g.46567796_46567801del	NCBI36
NG_008805.2:g.162478_162483del , LRG_778:g.162478_162483del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3208+57_3208+62del	ENSP00000453958.2:n.3208+57_3208+62del
ENST00000674301.2:c.3208+57_3208+62del	ENSP00000501333.2:n.3208+57_3208+62del
ENST00000684448.1:n.1882+57_1882+62del
ENST00000316623.10:c.3208+57_3208+62del MANE Select	ENSP00000325527.5:n.3208+57_3208+62del
ENST00000316623.9:c.3208+57_3208+62del	ENSP00000325527.5:n.3208+57_3208+62del
ENST00000537463.6:c.637-13661_637-13656del	ENSP00000440294.2:n.637-13661_637-13656de...
NM_000138.4:c.3208+57_3208+62del , LRG_778t1:c.3208+57_3208+62del	NP_000129.3:n.3208+57_3208+62del
NM_000138.5:c.3208+57_3208+62del MANE Select	NP_000129.3:n.3208+57_3208+62del