Canonical Allele Identifier: CA919548698

Gene: FBN1

Linked Data

• dbSNP Id: rs1597564413

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488535_48488536insCTT , CM000677.2:g.48488535_48488536insCTT	GRCh38
NC_000015.9:g.48780732_48780733insCTT , CM000677.1:g.48780732_48780733insCTT	GRCh37
NC_000015.8:g.46568024_46568025insCTT	NCBI36
NG_008805.2:g.162253_162254insAAG , LRG_778:g.162253_162254insAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3083-43_3083-42insAAG	ENSP00000453958.2:n.3083-43_3083-42insAAG
ENST00000674301.2:c.3083-43_3083-42insAAG	ENSP00000501333.2:n.3083-43_3083-42insAAG
ENST00000684448.1:n.1757-43_1757-42insAAG
ENST00000316623.10:c.3083-43_3083-42insAAG MANE Select	ENSP00000325527.5:n.3083-43_3083-42insAAG
ENST00000316623.9:c.3083-43_3083-42insAAG	ENSP00000325527.5:n.3083-43_3083-42insAAG
ENST00000537463.6:c.637-13886_637-13885insAAG	ENSP00000440294.2:n.637-13886_637-13885insAAG
NM_000138.4:c.3083-43_3083-42insAAG , LRG_778t1:c.3083-43_3083-42insAAG	NP_000129.3:n.3083-43_3083-42insAAG
NM_000138.5:c.3083-43_3083-42insAAG MANE Select	NP_000129.3:n.3083-43_3083-42insAAG