Canonical Allele Identifier: CA2175515633

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488031_48488032delinsGA , CM000677.2:g.48488031_48488032delinsGA	GRCh38
NC_000015.9:g.48780228_48780229delinsGA , CM000677.1:g.48780228_48780229delinsGA	GRCh37
NC_000015.8:g.46567520_46567521delinsGA	NCBI36
NG_008805.2:g.162757_162758delinsTC , LRG_778:g.162757_162758delinsTC

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.3337+81_3337+82delinsTC MANE Select	NP_000129.3:n.3337+81_3337+82delinsTC
ENST00000316623.10:c.3337+81_3337+82delinsTC MANE Select	ENSP00000325527.5:n.3337+81_3337+82delinsTC
NM_000138.4:c.3337+81_3337+82delinsTC , LRG_778t1:c.3337+81_3337+82delinsTC	NP_000129.3:n.3337+81_3337+82delinsTC
ENST00000316623.9:c.3337+81_3337+82delinsTC	ENSP00000325527.5:n.3337+81_3337+82delinsTC
ENST00000537463.6:c.637-13382_637-13381delinsTC	ENSP00000440294.2:n.637-13382_637-13381delinsTC
ENST00000559133.6:c.3337+81_3337+82delinsTC	ENSP00000453958.2:n.3337+81_3337+82delinsTC
ENST00000674301.2:c.3337+81_3337+82delinsTC	ENSP00000501333.2:n.3337+81_3337+82delinsTC
ENST00000684448.1:n.2011+81_2011+82delinsTC