Canonical Allele Identifier: CA2628347980

Gene: FBN1

Linked Data

• gnomAD v4: 15-48448899-A-AGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48448899_48448900insGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG , CM000677.2:g.48448899_48448900insGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG	GRCh38
NC_000015.9:g.48741096_48741097insGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG , CM000677.1:g.48741096_48741097insGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG	GRCh37
NC_000015.8:g.46528388_46528389insGCGGTAGCCGGGCTTACAGTCACAGCGGTAGCTGCCTGCAGTGTTG	NCBI36
NG_008805.2:g.201889_201890insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC , LRG_778:g.201889_201890insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC	ENSP00000453958.2:n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGT...
ENST00000674301.2:c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC	ENSP00000501333.2:n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGT...
ENST00000684448.1:n.4220-7_4220-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC
ENST00000316623.10:c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC MANE Select	ENSP00000325527.5:n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGT...
ENST00000674301.1:c.545-7_545-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC	ENSP00000501333.1:n.545-7_545-6insCAACACTGCAGGCAGCTACCGCTGTGA...
ENST00000316623.9:c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC	ENSP00000325527.5:n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGT...
ENST00000537463.6:c.*1309-7_*1309-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC	ENSP00000440294.2:n.*1309-7_*1309-6insCAACACTGCAGGCAGCTACCGCT...
ENST00000559133.5:c.853-7_853-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC
NM_000138.4:c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC , LRG_778t1:c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC	NP_000129.3:n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGT...
NM_000138.5:c.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC MANE Select	NP_000129.3:n.5546-7_5546-6insCAACACTGCAGGCAGCTACCGCTGTGACTGT...