Canonical Allele Identifier: CA969561035

Gene: FBN1

Linked Data

• gnomAD v3: 15-48472438-AGCT-A
• gnomAD v4: 15-48472438-AGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472439_48472441del , CM000677.2:g.48472439_48472441del	GRCh38
NC_000015.9:g.48764636_48764638del , CM000677.1:g.48764636_48764638del	GRCh37
NC_000015.8:g.46551928_46551930del	NCBI36
NG_008805.2:g.178348_178350del , LRG_778:g.178348_178350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+110_4336+112del	ENSP00000453958.2:n.4336+110_4336+112del
ENST00000674301.2:c.4336+110_4336+112del	ENSP00000501333.2:n.4336+110_4336+112del
ENST00000683268.1:n.303+110_303+112del
ENST00000684448.1:n.3010+110_3010+112del
ENST00000316623.10:c.4336+110_4336+112del MANE Select	ENSP00000325527.5:n.4336+110_4336+112del
ENST00000316623.9:c.4336+110_4336+112del	ENSP00000325527.5:n.4336+110_4336+112del
ENST00000537463.6:c.*99+110_*99+112del	ENSP00000440294.2:n.*99+110_*99+112del
NM_000138.4:c.4336+110_4336+112del , LRG_778t1:c.4336+110_4336+112del	NP_000129.3:n.4336+110_4336+112del
NM_000138.5:c.4336+110_4336+112del MANE Select	NP_000129.3:n.4336+110_4336+112del