Canonical Allele Identifier: CA2175510045

Gene: FBN1

Linked Data

• dbSNP Id: rs2043487694

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484191_48484192insATAT , CM000677.2:g.48484191_48484192insATAT	GRCh38
NC_000015.9:g.48776388_48776389insATAT , CM000677.1:g.48776388_48776389insATAT	GRCh37
NC_000015.8:g.46563680_46563681insATAT	NCBI36
NG_008805.2:g.166600_166601insTATA , LRG_778:g.166600_166601insTATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-246_3713-245insTATA	ENSP00000453958.2:n.3713-246_3713-245insTATA
ENST00000674301.2:c.3713-246_3713-245insTATA	ENSP00000501333.2:n.3713-246_3713-245insTATA
ENST00000684448.1:n.2387-246_2387-245insTATA
ENST00000316623.10:c.3713-246_3713-245insTATA MANE Select	ENSP00000325527.5:n.3713-246_3713-245insTATA
ENST00000316623.9:c.3713-246_3713-245insTATA	ENSP00000325527.5:n.3713-246_3713-245insTATA
ENST00000537463.6:c.637-9539_637-9538insTATA	ENSP00000440294.2:n.637-9539_637-9538insTATA
NM_000138.4:c.3713-246_3713-245insTATA , LRG_778t1:c.3713-246_3713-245insTATA	NP_000129.3:n.3713-246_3713-245insTATA
NM_000138.5:c.3713-246_3713-245insTATA MANE Select	NP_000129.3:n.3713-246_3713-245insTATA