Canonical Allele Identifier: CA2628325334

Gene: FBN1

Linked Data

• gnomAD v4: 15-48412745-T-TTGGCCTATGCGGAAGTAACCAGGTGGACAGCCACACAGGTAACCGCCCTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412745_48412746insTGGCCTATGCGGAAGTAACCAGGTGGACAGCCACACAGGTAACCGCCCTCG , CM000677.2:g.48412745_48412746insTGGCCTATGCGGAAGTAACCAGGTGGACAGCCACACAGGTAACCGCCCTCG	GRCh38
NC_000015.9:g.48704942_48704943insTGGCCTATGCGGAAGTAACCAGGTGGACAGCCACACAGGTAACCGCCCTCG , CM000677.1:g.48704942_48704943insTGGCCTATGCGGAAGTAACCAGGTGGACAGCCACACAGGTAACCGCCCTCG	GRCh37
NC_000015.8:g.46492234_46492235insTGGCCTATGCGGAAGTAACCAGGTGGACAGCCACACAGGTAACCGCCCTCG	NCBI36
NG_008805.2:g.238043_238044insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA , LRG_778:g.238043_238044insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-3_*860-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA	ENSP00000453958.2:n.*860-3_*860-2insCGAGGGCGGTTACCTGTGTGGCTGT...
ENST00000674301.2:c.*1565-3_*1565-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA	ENSP00000501333.2:n.*1565-3_*1565-2insCGAGGGCGGTTACCTGTGTGGCT...
ENST00000682158.1:n.1433-3_1433-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA
ENST00000682170.1:n.2233-3_2233-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA
ENST00000682767.1:n.1349-3_1349-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA
ENST00000316623.10:c.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA MANE Select	ENSP00000325527.5:n.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGT...
ENST00000674301.1:c.3218-3_3218-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA	ENSP00000501333.1:n.3218-3_3218-2insCGAGGGCGGTTACCTGTGTGGCTGT...
ENST00000316623.9:c.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA	ENSP00000325527.5:n.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGT...
ENST00000559133.5:c.3421-3_3421-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA
ENST00000561429.1:n.307-3_307-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA
NM_000138.4:c.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA , LRG_778t1:c.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA	NP_000129.3:n.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCT...
NM_000138.5:c.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGCATAGGCCA MANE Select	NP_000129.3:n.8052-3_8052-2insCGAGGGCGGTTACCTGTGTGGCTGTCCACCT...