Canonical Allele Identifier: CA2628334282

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472481-ATCAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472482_48472486del , CM000677.2:g.48472482_48472486del	GRCh38
NC_000015.9:g.48764679_48764683del , CM000677.1:g.48764679_48764683del	GRCh37
NC_000015.8:g.46551971_46551975del	NCBI36
NG_008805.2:g.178303_178307del , LRG_778:g.178303_178307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+65_4336+69del	ENSP00000453958.2:n.4336+65_4336+69del
ENST00000674301.2:c.4336+65_4336+69del	ENSP00000501333.2:n.4336+65_4336+69del
ENST00000683268.1:n.303+65_303+69del
ENST00000684448.1:n.3010+65_3010+69del
ENST00000316623.10:c.4336+65_4336+69del MANE Select	ENSP00000325527.5:n.4336+65_4336+69del
ENST00000316623.9:c.4336+65_4336+69del	ENSP00000325527.5:n.4336+65_4336+69del
ENST00000537463.6:c.*99+65_*99+69del	ENSP00000440294.2:n.*99+65_*99+69del
NM_000138.4:c.4336+65_4336+69del , LRG_778t1:c.4336+65_4336+69del	NP_000129.3:n.4336+65_4336+69del
NM_000138.5:c.4336+65_4336+69del MANE Select	NP_000129.3:n.4336+65_4336+69del