Canonical Allele Identifier: CA2628347971

Gene: FBN1

Linked Data

• gnomAD v4: 15-48448894-C-CATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG , CM000677.2:g.48448894_48448895insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG	GRCh38
NC_000015.9:g.48741091_48741092insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG , CM000677.1:g.48741091_48741092insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG	GRCh37
NC_000015.8:g.46528383_46528384insATTGCACTGTCCTGTGGAGGTGAAGCGGTAGCCGGGCTTACAGTCACAGCGG	NCBI36
NG_008805.2:g.201894_201895insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT , LRG_778:g.201894_201895insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000453958.2:n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTAC...
ENST00000674301.2:c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000501333.2:n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTAC...
ENST00000684448.1:n.4220-2_4220-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT
ENST00000316623.10:c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT MANE Select	ENSP00000325527.5:n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTAC...
ENST00000674301.1:c.545-2_545-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000501333.1:n.545-2_545-1insCCGCTGTGACTGTAAGCCCGGCTACCG...
ENST00000316623.9:c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000325527.5:n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTAC...
ENST00000537463.6:c.*1309-2_*1309-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	ENSP00000440294.2:n.*1309-2_*1309-1insCCGCTGTGACTGTAAGCCCGGCT...
ENST00000559133.5:c.853-2_853-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT
NM_000138.4:c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT , LRG_778t1:c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT	NP_000129.3:n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTC...
NM_000138.5:c.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTCACCTCCACAGGACAGTGCAAT MANE Select	NP_000129.3:n.5546-2_5546-1insCCGCTGTGACTGTAAGCCCGGCTACCGCTTC...