Canonical Allele Identifier: CA916082406

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48505109_48505110delinsTG , CM000677.2:g.48505109_48505110delinsTG	GRCh38
NC_000015.9:g.48797306_48797307delinsTG , CM000677.1:g.48797306_48797307delinsTG	GRCh37
NC_000015.8:g.46584598_46584599delinsTG	NCBI36
NG_008805.2:g.145679_145680delinsCA , LRG_778:g.145679_145680delinsCA

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.1875_1876delinsCA MANE Select	NP_000129.3:p.Gly626Arg
ENST00000316623.10:c.1875_1876delinsCA MANE Select	ENSP00000325527.5:p.Gly626Arg
NM_000138.4:c.1875_1876delinsCA , LRG_778t1:c.1875_1876delinsCA	NP_000129.3:p.Gly626Arg
ENST00000316623.9:c.1875_1876delinsCA	ENSP00000325527.5:p.Gly626Arg
ENST00000537463.6:c.637-30460_637-30459delinsCA	ENSP00000440294.2:n.637-30460_637-30459delinsCA
ENST00000559133.6:c.1875_1876delinsCA	ENSP00000453958.2:p.Gly626Arg
ENST00000674301.2:c.1875_1876delinsCA	ENSP00000501333.2:p.Gly626Arg
ENST00000684448.1:n.549_550delinsCA