Canonical Allele Identifier: CA969550549

Gene: FBN1

Linked Data

• dbSNP Id: rs2043146733
• gnomAD v3: 15-48445187-T-TAC
• gnomAD v4: 15-48445187-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445188_48445189insCA , CM000677.2:g.48445188_48445189insCA	GRCh38
NC_000015.9:g.48737385_48737386insCA , CM000677.1:g.48737385_48737386insCA	GRCh37
NC_000015.8:g.46524677_46524678insCA	NCBI36
NG_008805.2:g.205601_205602insGT , LRG_778:g.205601_205602insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+188_5917+189insGT	ENSP00000453958.2:n.5917+188_5917+189insGT
ENST00000674301.2:c.5917+188_5917+189insGT	ENSP00000501333.2:n.5917+188_5917+189insGT
ENST00000684448.1:n.4591+188_4591+189insGT
ENST00000316623.10:c.5917+188_5917+189insGT MANE Select	ENSP00000325527.5:n.5917+188_5917+189insGT
ENST00000674301.1:c.916+188_916+189insGT	ENSP00000501333.1:n.916+188_916+189insGT
ENST00000316623.9:c.5917+188_5917+189insGT	ENSP00000325527.5:n.5917+188_5917+189insGT
ENST00000537463.6:c.*1680+188_*1680+189insGT	ENSP00000440294.2:n.*1680+188_*1680+189insGT
ENST00000559133.5:c.1224+188_1224+189insGT
ENST00000560820.1:n.37+188_37+189insGT
NM_000138.4:c.5917+188_5917+189insGT , LRG_778t1:c.5917+188_5917+189insGT	NP_000129.3:n.5917+188_5917+189insGT
NM_000138.5:c.5917+188_5917+189insGT MANE Select	NP_000129.3:n.5917+188_5917+189insGT