Canonical Allele Identifier: CA2502648700

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48434396del , CM000677.2:g.48434396del	GRCh38
NC_000015.9:g.48726593del , CM000677.1:g.48726593del	GRCh37
NC_000015.8:g.46513885del	NCBI36
NG_008805.2:g.216393del , LRG_778:g.216393del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6616+198del	ENSP00000453958.2:n.6616+198del
ENST00000674301.2:c.6617-184del	ENSP00000501333.2:n.6617-184del
ENST00000682170.1:n.225+198del
ENST00000316623.10:c.6616+198del MANE Select	ENSP00000325527.5:n.6616+198del
ENST00000674301.1:c.1616-184del	ENSP00000501333.1:n.1616-184del
ENST00000316623.9:c.6616+198del	ENSP00000325527.5:n.6616+198del
ENST00000537463.6:c.*2379+198del	ENSP00000440294.2:n.*2379+198del
ENST00000559133.5:c.1923+198del
NM_000138.4:c.6616+198del , LRG_778t1:c.6616+198del	NP_000129.3:n.6616+198del
NM_000138.5:c.6616+198del MANE Select	NP_000129.3:n.6616+198del