Canonical Allele Identifier: CA2804072634

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508840_48508841insCACACCCAACAC , CM000677.2:g.48508840_48508841insCACACCCAACAC	GRCh38
NC_000015.9:g.48801037_48801038insCACACCCAACAC , CM000677.1:g.48801037_48801038insCACACCCAACAC	GRCh37
NC_000015.8:g.46588329_46588330insCACACCCAACAC	NCBI36
NG_008805.2:g.141948_141949insGTGTTGGGTGTG , LRG_778:g.141948_141949insGTGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-137_1715-136insGTGTTGGGTGTG	ENSP00000453958.2:n.1715-137_1715-136insGTGTTGGGTGTG
ENST00000674301.2:c.1715-137_1715-136insGTGTTGGGTGTG	ENSP00000501333.2:n.1715-137_1715-136insGTGTTGGGTGTG
ENST00000684448.1:n.389-137_389-136insGTGTTGGGTGTG
ENST00000316623.10:c.1715-137_1715-136insGTGTTGGGTGTG MANE Select	ENSP00000325527.5:n.1715-137_1715-136insGTGTTGGGTGTG
ENST00000316623.9:c.1715-137_1715-136insGTGTTGGGTGTG	ENSP00000325527.5:n.1715-137_1715-136insGTGTTGGGTGTG
ENST00000537463.6:c.636+28870_636+28871insGTGTTGGGTGTG	ENSP00000440294.2:n.636+28870_636+28871insGTGTTGGGTGTG
NM_000138.4:c.1715-137_1715-136insGTGTTGGGTGTG , LRG_778t1:c.1715-137_1715-136insGTGTTGGGTGTG	NP_000129.3:n.1715-137_1715-136insGTGTTGGGTGTG
NM_000138.5:c.1715-137_1715-136insGTGTTGGGTGTG MANE Select	NP_000129.3:n.1715-137_1715-136insGTGTTGGGTGTG