Canonical Allele Identifier: CA2175516424

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48488531_48488532delinsTG , CM000677.2:g.48488531_48488532delinsTG	GRCh38
NC_000015.9:g.48780728_48780729delinsTG , CM000677.1:g.48780728_48780729delinsTG	GRCh37
NC_000015.8:g.46568020_46568021delinsTG	NCBI36
NG_008805.2:g.162257_162258delinsCA , LRG_778:g.162257_162258delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3083-39_3083-38delinsCA	ENSP00000453958.2:n.3083-39_3083-38delinsCA
ENST00000674301.2:c.3083-39_3083-38delinsCA	ENSP00000501333.2:n.3083-39_3083-38delinsCA
ENST00000684448.1:n.1757-39_1757-38delinsCA
ENST00000316623.10:c.3083-39_3083-38delinsCA MANE Select	ENSP00000325527.5:n.3083-39_3083-38delinsCA
ENST00000316623.9:c.3083-39_3083-38delinsCA	ENSP00000325527.5:n.3083-39_3083-38delinsCA
ENST00000537463.6:c.637-13882_637-13881delinsCA	ENSP00000440294.2:n.637-13882_637-13881delinsCA
NM_000138.4:c.3083-39_3083-38delinsCA , LRG_778t1:c.3083-39_3083-38delinsCA	NP_000129.3:n.3083-39_3083-38delinsCA
NM_000138.5:c.3083-39_3083-38delinsCA MANE Select	NP_000129.3:n.3083-39_3083-38delinsCA