Canonical Allele Identifier: CA2628329447

Gene: FBN1

Linked Data

• gnomAD v4: 15-48485250-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485251del , CM000677.2:g.48485251del	GRCh38
NC_000015.9:g.48777448del , CM000677.1:g.48777448del	GRCh37
NC_000015.8:g.46564740del	NCBI36
NG_008805.2:g.165538del , LRG_778:g.165538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.3712+123del	ENSP00000453958.2:n.3712+123del
ENST00000674301.2:c.3712+123del	ENSP00000501333.2:n.3712+123del
ENST00000684448.1:n.2386+123del
ENST00000316623.10:c.3712+123del MANE Select	ENSP00000325527.5:n.3712+123del
ENST00000316623.9:c.3712+123del	ENSP00000325527.5:n.3712+123del
ENST00000537463.6:c.637-10601del	ENSP00000440294.2:n.637-10601del
NM_000138.4:c.3712+123del , LRG_778t1:c.3712+123del	NP_000129.3:n.3712+123del
NM_000138.5:c.3712+123del MANE Select	NP_000129.3:n.3712+123del