Canonical Allele Identifier: CA2804070429

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445631_48445632insCAAAACCAAACACACCC , CM000677.2:g.48445631_48445632insCAAAACCAAACACACCC	GRCh38
NC_000015.9:g.48737828_48737829insCAAAACCAAACACACCC , CM000677.1:g.48737828_48737829insCAAAACCAAACACACCC	GRCh37
NC_000015.8:g.46525120_46525121insCAAAACCAAACACACCC	NCBI36
NG_008805.2:g.205158_205159insGGTGTGTTTGGTTTTGG , LRG_778:g.205158_205159insGGTGTGTTTGGTTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-127_5789-126insGGTGTGTTTGGTTTTGG	ENSP00000453958.2:n.5789-127_5789-126insGGTGTGTTTGGTTTTGG
ENST00000674301.2:c.5789-127_5789-126insGGTGTGTTTGGTTTTGG	ENSP00000501333.2:n.5789-127_5789-126insGGTGTGTTTGGTTTTGG
ENST00000684448.1:n.4463-127_4463-126insGGTGTGTTTGGTTTTGG
ENST00000316623.10:c.5789-127_5789-126insGGTGTGTTTGGTTTTGG MANE Select	ENSP00000325527.5:n.5789-127_5789-126insGGTGTGTTTGGTTTTGG
ENST00000674301.1:c.788-127_788-126insGGTGTGTTTGGTTTTGG	ENSP00000501333.1:n.788-127_788-126insGGTGTGTTTGGTTTTGG
ENST00000316623.9:c.5789-127_5789-126insGGTGTGTTTGGTTTTGG	ENSP00000325527.5:n.5789-127_5789-126insGGTGTGTTTGGTTTTGG
ENST00000537463.6:c.*1552-127_*1552-126insGGTGTGTTTGGTTTTGG	ENSP00000440294.2:n.*1552-127_*1552-126insGGTGTGTTTGGTTTTGG
ENST00000559133.5:c.1096-127_1096-126insGGTGTGTTTGGTTTTGG
NM_000138.4:c.5789-127_5789-126insGGTGTGTTTGGTTTTGG , LRG_778t1:c.5789-127_5789-126insGGTGTGTTTGGTTTTGG	NP_000129.3:n.5789-127_5789-126insGGTGTGTTTGGTTTTGG
NM_000138.5:c.5789-127_5789-126insGGTGTGTTTGGTTTTGG MANE Select	NP_000129.3:n.5789-127_5789-126insGGTGTGTTTGGTTTTGG