Canonical Allele Identifier: CA2517513847

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490248_48490249insAGCAAATTA , CM000677.2:g.48490248_48490249insAGCAAATTA	GRCh38
NC_000015.9:g.48782445_48782446insAGCAAATTA , CM000677.1:g.48782445_48782446insAGCAAATTA	GRCh37
NC_000015.8:g.46569737_46569738insAGCAAATTA	NCBI36
NG_008805.2:g.160540_160541insTAATTTGCT , LRG_778:g.160540_160541insTAATTTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-171_2855-170insTAATTTGCT	ENSP00000453958.2:n.2855-171_2855-170insTAATTTGCT
ENST00000674301.2:c.2855-171_2855-170insTAATTTGCT	ENSP00000501333.2:n.2855-171_2855-170insTAATTTGCT
ENST00000684448.1:n.1529-171_1529-170insTAATTTGCT
ENST00000316623.10:c.2855-171_2855-170insTAATTTGCT MANE Select	ENSP00000325527.5:n.2855-171_2855-170insTAATTTGCT
ENST00000316623.9:c.2855-171_2855-170insTAATTTGCT	ENSP00000325527.5:n.2855-171_2855-170insTAATTTGCT
ENST00000537463.6:c.637-15599_637-15598insTAATTTGCT	ENSP00000440294.2:n.637-15599_637-15598insTAATTTGCT
NM_000138.4:c.2855-171_2855-170insTAATTTGCT , LRG_778t1:c.2855-171_2855-170insTAATTTGCT	NP_000129.3:n.2855-171_2855-170insTAATTTGCT
NM_000138.5:c.2855-171_2855-170insTAATTTGCT MANE Select	NP_000129.3:n.2855-171_2855-170insTAATTTGCT