Canonical Allele Identifier: CA2175510040

Gene: FBN1

Linked Data

• dbSNP Id: rs2043487656

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484187_48484190del , CM000677.2:g.48484187_48484190del	GRCh38
NC_000015.9:g.48776384_48776387del , CM000677.1:g.48776384_48776387del	GRCh37
NC_000015.8:g.46563676_46563679del	NCBI36
NG_008805.2:g.166599_166602del , LRG_778:g.166599_166602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-247_3713-244del	ENSP00000453958.2:n.3713-247_3713-244del
ENST00000674301.2:c.3713-247_3713-244del	ENSP00000501333.2:n.3713-247_3713-244del
ENST00000684448.1:n.2387-247_2387-244del
ENST00000316623.10:c.3713-247_3713-244del MANE Select	ENSP00000325527.5:n.3713-247_3713-244del
ENST00000316623.9:c.3713-247_3713-244del	ENSP00000325527.5:n.3713-247_3713-244del
ENST00000537463.6:c.637-9540_637-9537del	ENSP00000440294.2:n.637-9540_637-9537del
NM_000138.4:c.3713-247_3713-244del , LRG_778t1:c.3713-247_3713-244del	NP_000129.3:n.3713-247_3713-244del
NM_000138.5:c.3713-247_3713-244del MANE Select	NP_000129.3:n.3713-247_3713-244del