Canonical Allele Identifier: CA2575717186

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472713del , CM000677.2:g.48472713del	GRCh38
NC_000015.9:g.48764910del , CM000677.1:g.48764910del	GRCh37
NC_000015.8:g.46552202del	NCBI36
NG_008805.2:g.178077del , LRG_778:g.178077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4211-36del	ENSP00000453958.2:n.4211-36del
ENST00000674301.2:c.4211-36del	ENSP00000501333.2:n.4211-36del
ENST00000683268.1:n.142del
ENST00000684448.1:n.2885-36del
ENST00000316623.10:c.4211-36del MANE Select	ENSP00000325527.5:n.4211-36del
ENST00000316623.9:c.4211-36del	ENSP00000325527.5:n.4211-36del
ENST00000537463.6:c.883-36del	ENSP00000440294.2:n.883-36del
NM_000138.4:c.4211-36del , LRG_778t1:c.4211-36del	NP_000129.3:n.4211-36del
NM_000138.5:c.4211-36del MANE Select	NP_000129.3:n.4211-36del