Canonical Allele Identifier: CA2521284636

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434393_48434394insGGCG , CM000677.2:g.48434393_48434394insGGCG	GRCh38
NC_000015.9:g.48726590_48726591insGGCG , CM000677.1:g.48726590_48726591insGGCG	GRCh37
NC_000015.8:g.46513882_46513883insGGCG	NCBI36
NG_008805.2:g.216395_216396insCGCC , LRG_778:g.216395_216396insCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+200_6616+201insCGCC	ENSP00000453958.2:n.6616+200_6616+201insCGCC
ENST00000674301.2:c.6617-182_6617-181insCGCC	ENSP00000501333.2:n.6617-182_6617-181insCGCC
ENST00000682170.1:n.225+200_225+201insCGCC
ENST00000316623.10:c.6616+200_6616+201insCGCC MANE Select	ENSP00000325527.5:n.6616+200_6616+201insCGCC
ENST00000674301.1:c.1616-182_1616-181insCGCC	ENSP00000501333.1:n.1616-182_1616-181insCGCC
ENST00000316623.9:c.6616+200_6616+201insCGCC	ENSP00000325527.5:n.6616+200_6616+201insCGCC
ENST00000537463.6:c.*2379+200_*2379+201insCGCC	ENSP00000440294.2:n.*2379+200_*2379+201insCGCC
ENST00000559133.5:c.1923+200_1923+201insCGCC
NM_000138.4:c.6616+200_6616+201insCGCC , LRG_778t1:c.6616+200_6616+201insCGCC	NP_000129.3:n.6616+200_6616+201insCGCC
NM_000138.5:c.6616+200_6616+201insCGCC MANE Select	NP_000129.3:n.6616+200_6616+201insCGCC