Canonical Allele Identifier: CA2175521073

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489696_48489697delinsCA , CM000677.2:g.48489696_48489697delinsCA	GRCh38
NC_000015.9:g.48781893_48781894delinsCA , CM000677.1:g.48781893_48781894delinsCA	GRCh37
NC_000015.8:g.46569185_46569186delinsCA	NCBI36
NG_008805.2:g.161092_161093delinsTG , LRG_778:g.161092_161093delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3082+154_3082+155delinsTG	ENSP00000453958.2:n.3082+154_3082+155delinsTG
ENST00000674301.2:c.3082+154_3082+155delinsTG	ENSP00000501333.2:n.3082+154_3082+155delinsTG
ENST00000684448.1:n.1756+154_1756+155delinsTG
ENST00000316623.10:c.3082+154_3082+155delinsTG MANE Select	ENSP00000325527.5:n.3082+154_3082+155delinsTG
ENST00000316623.9:c.3082+154_3082+155delinsTG	ENSP00000325527.5:n.3082+154_3082+155delinsTG
ENST00000537463.6:c.637-15047_637-15046delinsTG	ENSP00000440294.2:n.637-15047_637-15046delinsTG
NM_000138.4:c.3082+154_3082+155delinsTG , LRG_778t1:c.3082+154_3082+155delinsTG	NP_000129.3:n.3082+154_3082+155delinsTG
NM_000138.5:c.3082+154_3082+155delinsTG MANE Select	NP_000129.3:n.3082+154_3082+155delinsTG