Canonical Allele Identifier: CA2628329061

Gene: FBN1

Linked Data

• gnomAD v4: 15-48481824-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48481825_48481827del , CM000677.2:g.48481825_48481827del	GRCh38
NC_000015.9:g.48774022_48774024del , CM000677.1:g.48774022_48774024del	GRCh37
NC_000015.8:g.46561314_46561316del	NCBI36
NG_008805.2:g.168962_168964del , LRG_778:g.168962_168964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3839-47_3839-45del	ENSP00000453958.2:n.3839-47_3839-45del
ENST00000674301.2:c.3839-47_3839-45del	ENSP00000501333.2:n.3839-47_3839-45del
ENST00000684448.1:n.2513-47_2513-45del
ENST00000316623.10:c.3839-47_3839-45del MANE Select	ENSP00000325527.5:n.3839-47_3839-45del
ENST00000316623.9:c.3839-47_3839-45del	ENSP00000325527.5:n.3839-47_3839-45del
ENST00000537463.6:c.637-7177_637-7175del	ENSP00000440294.2:n.637-7177_637-7175del
NM_000138.4:c.3839-47_3839-45del , LRG_778t1:c.3839-47_3839-45del	NP_000129.3:n.3839-47_3839-45del
NM_000138.5:c.3839-47_3839-45del MANE Select	NP_000129.3:n.3839-47_3839-45del