Canonical Allele Identifier: CA969564496

Gene: FBN1

Linked Data

• dbSNP Id: rs2043736126
• gnomAD v3: 15-48508942-GTA-G
• gnomAD v4: 15-48508942-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48508946_48508947del , CM000677.2:g.48508946_48508947del	GRCh38
NC_000015.9:g.48801143_48801144del , CM000677.1:g.48801143_48801144del	GRCh37
NC_000015.8:g.46588435_46588436del	NCBI36
NG_008805.2:g.141845_141846del , LRG_778:g.141845_141846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1715-240_1715-239del	ENSP00000453958.2:n.1715-240_1715-239del
ENST00000674301.2:c.1715-240_1715-239del	ENSP00000501333.2:n.1715-240_1715-239del
ENST00000684448.1:n.389-240_389-239del
ENST00000316623.10:c.1715-240_1715-239del MANE Select	ENSP00000325527.5:n.1715-240_1715-239del
ENST00000316623.9:c.1715-240_1715-239del	ENSP00000325527.5:n.1715-240_1715-239del
ENST00000537463.6:c.636+28767_636+28768del	ENSP00000440294.2:n.636+28767_636+28768del
NM_000138.4:c.1715-240_1715-239del , LRG_778t1:c.1715-240_1715-239del	NP_000129.3:n.1715-240_1715-239del
NM_000138.5:c.1715-240_1715-239del MANE Select	NP_000129.3:n.1715-240_1715-239del