Canonical Allele Identifier: CA2804072060

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472458_48472459insCAA , CM000677.2:g.48472458_48472459insCAA	GRCh38
NC_000015.9:g.48764655_48764656insCAA , CM000677.1:g.48764655_48764656insCAA	GRCh37
NC_000015.8:g.46551947_46551948insCAA	NCBI36
NG_008805.2:g.178330_178331insTTG , LRG_778:g.178330_178331insTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+92_4336+93insTTG	ENSP00000453958.2:n.4336+92_4336+93insTTG
ENST00000674301.2:c.4336+92_4336+93insTTG	ENSP00000501333.2:n.4336+92_4336+93insTTG
ENST00000683268.1:n.303+92_303+93insTTG
ENST00000684448.1:n.3010+92_3010+93insTTG
ENST00000316623.10:c.4336+92_4336+93insTTG MANE Select	ENSP00000325527.5:n.4336+92_4336+93insTTG
ENST00000316623.9:c.4336+92_4336+93insTTG	ENSP00000325527.5:n.4336+92_4336+93insTTG
ENST00000537463.6:c.*99+92_*99+93insTTG	ENSP00000440294.2:n.*99+92_*99+93insTTG
NM_000138.4:c.4336+92_4336+93insTTG , LRG_778t1:c.4336+92_4336+93insTTG	NP_000129.3:n.4336+92_4336+93insTTG
NM_000138.5:c.4336+92_4336+93insTTG MANE Select	NP_000129.3:n.4336+92_4336+93insTTG