Canonical Allele Identifier: CA919548815

Gene: FBN1

Linked Data

• dbSNP Id: rs1597560465

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484170_48484171insTTC , CM000677.2:g.48484170_48484171insTTC	GRCh38
NC_000015.9:g.48776367_48776368insTTC , CM000677.1:g.48776367_48776368insTTC	GRCh37
NC_000015.8:g.46563659_46563660insTTC	NCBI36
NG_008805.2:g.166619_166620insAAG , LRG_778:g.166619_166620insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-227_3713-226insAAG	ENSP00000453958.2:n.3713-227_3713-226insAAG
ENST00000674301.2:c.3713-227_3713-226insAAG	ENSP00000501333.2:n.3713-227_3713-226insAAG
ENST00000684448.1:n.2387-227_2387-226insAAG
ENST00000316623.10:c.3713-227_3713-226insAAG MANE Select	ENSP00000325527.5:n.3713-227_3713-226insAAG
ENST00000316623.9:c.3713-227_3713-226insAAG	ENSP00000325527.5:n.3713-227_3713-226insAAG
ENST00000537463.6:c.637-9520_637-9519insAAG	ENSP00000440294.2:n.637-9520_637-9519insAAG
NM_000138.4:c.3713-227_3713-226insAAG , LRG_778t1:c.3713-227_3713-226insAAG	NP_000129.3:n.3713-227_3713-226insAAG
NM_000138.5:c.3713-227_3713-226insAAG MANE Select	NP_000129.3:n.3713-227_3713-226insAAG