Canonical Allele Identifier: CA919548817

Gene: FBN1

Linked Data

• dbSNP Id: rs1597560482

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484175_48484176insT , CM000677.2:g.48484175_48484176insT	GRCh38
NC_000015.9:g.48776372_48776373insT , CM000677.1:g.48776372_48776373insT	GRCh37
NC_000015.8:g.46563664_46563665insT	NCBI36
NG_008805.2:g.166613_166614insA , LRG_778:g.166613_166614insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-233_3713-232insA	ENSP00000453958.2:n.3713-233_3713-232insA
ENST00000674301.2:c.3713-233_3713-232insA	ENSP00000501333.2:n.3713-233_3713-232insA
ENST00000684448.1:n.2387-233_2387-232insA
ENST00000316623.10:c.3713-233_3713-232insA MANE Select	ENSP00000325527.5:n.3713-233_3713-232insA
ENST00000316623.9:c.3713-233_3713-232insA	ENSP00000325527.5:n.3713-233_3713-232insA
ENST00000537463.6:c.637-9526_637-9525insA	ENSP00000440294.2:n.637-9526_637-9525insA
NM_000138.4:c.3713-233_3713-232insA , LRG_778t1:c.3713-233_3713-232insA	NP_000129.3:n.3713-233_3713-232insA
NM_000138.5:c.3713-233_3713-232insA MANE Select	NP_000129.3:n.3713-233_3713-232insA