Canonical Allele Identifier: CA2175573666

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48611123_48611127delinsCCAAA , CM000677.2:g.48611123_48611127delinsCCAAA	GRCh38
NC_000015.9:g.48903320_48903324delinsCCAAA , CM000677.1:g.48903320_48903324delinsCCAAA	GRCh37
NC_000015.8:g.46690612_46690616delinsCCAAA	NCBI36
NG_008805.2:g.39662_39666delinsTTTGG , LRG_778:g.39662_39666delinsTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.248-301_248-297delinsTTTGG	ENSP00000453958.2:n.248-301_248-297delinsTTTGG
ENST00000674301.2:c.248-301_248-297delinsTTTGG	ENSP00000501333.2:n.248-301_248-297delinsTTTGG
ENST00000316623.10:c.248-301_248-297delinsTTTGG MANE Select	ENSP00000325527.5:n.248-301_248-297delinsTTTGG
ENST00000316623.9:c.248-301_248-297delinsTTTGG	ENSP00000325527.5:n.248-301_248-297delinsTTTGG
ENST00000537463.6:c.248-301_248-297delinsTTTGG	ENSP00000440294.2:n.248-301_248-297delinsTTTGG
NM_000138.4:c.248-301_248-297delinsTTTGG , LRG_778t1:c.248-301_248-297delinsTTTGG	NP_000129.3:n.248-301_248-297delinsTTTGG
NM_000138.5:c.248-301_248-297delinsTTTGG MANE Select	NP_000129.3:n.248-301_248-297delinsTTTGG