Canonical Allele Identifier: CA2628337601

Gene: FBN1

Linked Data

• gnomAD v4: 15-48537559-CTCCAGAGCAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48537560_48537571del , CM000677.2:g.48537560_48537571del	GRCh38
NC_000015.9:g.48829757_48829768del , CM000677.1:g.48829757_48829768del	GRCh37
NC_000015.8:g.46617049_46617060del	NCBI36
NG_008805.2:g.113218_113229del , LRG_778:g.113218_113229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.736+40_736+51del	ENSP00000453958.2:n.736+40_736+51del
ENST00000674301.2:c.736+40_736+51del	ENSP00000501333.2:n.736+40_736+51del
ENST00000316623.10:c.736+40_736+51del MANE Select	ENSP00000325527.5:n.736+40_736+51del
ENST00000316623.9:c.736+40_736+51del	ENSP00000325527.5:n.736+40_736+51del
ENST00000537463.6:c.636+140_636+151del	ENSP00000440294.2:n.636+140_636+151del
NM_000138.4:c.736+40_736+51del , LRG_778t1:c.736+40_736+51del	NP_000129.3:n.736+40_736+51del
NM_000138.5:c.736+40_736+51del MANE Select	NP_000129.3:n.736+40_736+51del