Canonical Allele Identifier: CA969542748

Gene: FBN1

Linked Data

• gnomAD v3: 15-48428474-G-GCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCA
• gnomAD v4: 15-48428474-G-GCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428474_48428475insCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCA , CM000677.2:g.48428474_48428475insCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCA	GRCh38
NC_000015.9:g.48720671_48720672insCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCA , CM000677.1:g.48720671_48720672insCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCA	GRCh37
NC_000015.8:g.46507963_46507964insCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCA	NCBI36
NG_008805.2:g.222314_222315insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG , LRG_778:g.222314_222315insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG	ENSP00000453958.2:n.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCAC...
ENST00000674301.2:c.*323-4_*323-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG	ENSP00000501333.2:n.*323-4_*323-3insTGGAATGCAAGAACCTCATTGGCAC...
ENST00000682170.1:n.481-4_481-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG
ENST00000682767.1:n.103_104insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG
ENST00000316623.10:c.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG MANE Select	ENSP00000325527.5:n.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCAC...
ENST00000674301.1:c.1976-4_1976-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG	ENSP00000501333.1:n.1976-4_1976-3insTGGAATGCAAGAACCTCATTGGCAC...
ENST00000316623.9:c.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG	ENSP00000325527.5:n.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCAC...
ENST00000559133.5:c.2179-4_2179-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG
ENST00000560720.1:n.159-4_159-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG
NM_000138.4:c.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG , LRG_778t1:c.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG	NP_000129.3:n.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATAT...
NM_000138.5:c.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGG MANE Select	NP_000129.3:n.6872-4_6872-3insTGGAATGCAAGAACCTCATTGGCACATATAT...