Canonical Allele Identifier: CA969561018

Gene: FBN1

Linked Data

• gnomAD v3: 15-48472434-ATG-A
• gnomAD v4: 15-48472434-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472435_48472436del , CM000677.2:g.48472435_48472436del	GRCh38
NC_000015.9:g.48764632_48764633del , CM000677.1:g.48764632_48764633del	GRCh37
NC_000015.8:g.46551924_46551925del	NCBI36
NG_008805.2:g.178353_178354del , LRG_778:g.178353_178354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+115_4336+116del	ENSP00000453958.2:n.4336+115_4336+116del
ENST00000674301.2:c.4336+115_4336+116del	ENSP00000501333.2:n.4336+115_4336+116del
ENST00000683268.1:n.303+115_303+116del
ENST00000684448.1:n.3010+115_3010+116del
ENST00000316623.10:c.4336+115_4336+116del MANE Select	ENSP00000325527.5:n.4336+115_4336+116del
ENST00000316623.9:c.4336+115_4336+116del	ENSP00000325527.5:n.4336+115_4336+116del
ENST00000537463.6:c.*99+115_*99+116del	ENSP00000440294.2:n.*99+115_*99+116del
NM_000138.4:c.4336+115_4336+116del , LRG_778t1:c.4336+115_4336+116del	NP_000129.3:n.4336+115_4336+116del
NM_000138.5:c.4336+115_4336+116del MANE Select	NP_000129.3:n.4336+115_4336+116del