Canonical Allele Identifier: CA2175509815

Gene: FBN1

Linked Data

• dbSNP Id: rs2043486115

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48483978_48483980del , CM000677.2:g.48483978_48483980del	GRCh38
NC_000015.9:g.48776175_48776177del , CM000677.1:g.48776175_48776177del	GRCh37
NC_000015.8:g.46563467_46563469del	NCBI36
NG_008805.2:g.166810_166812del , LRG_778:g.166810_166812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-36_3713-34del	ENSP00000453958.2:n.3713-36_3713-34del
ENST00000674301.2:c.3713-36_3713-34del	ENSP00000501333.2:n.3713-36_3713-34del
ENST00000684448.1:n.2387-36_2387-34del
ENST00000316623.10:c.3713-36_3713-34del MANE Select	ENSP00000325527.5:n.3713-36_3713-34del
ENST00000316623.9:c.3713-36_3713-34del	ENSP00000325527.5:n.3713-36_3713-34del
ENST00000537463.6:c.637-9329_637-9327del	ENSP00000440294.2:n.637-9329_637-9327del
NM_000138.4:c.3713-36_3713-34del , LRG_778t1:c.3713-36_3713-34del	NP_000129.3:n.3713-36_3713-34del
NM_000138.5:c.3713-36_3713-34del MANE Select	NP_000129.3:n.3713-36_3713-34del