Canonical Allele Identifier: CA2804072470

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48485555_48485556insACACCAAACACACCCAACACA , CM000677.2:g.48485555_48485556insACACCAAACACACCCAACACA	GRCh38
NC_000015.9:g.48777752_48777753insACACCAAACACACCCAACACA , CM000677.1:g.48777752_48777753insACACCAAACACACCCAACACA	GRCh37
NC_000015.8:g.46565044_46565045insACACCAAACACACCCAACACA	NCBI36
NG_008805.2:g.165234_165235insGTGTTGGGTGTGTTTGGTGTT , LRG_778:g.165234_165235insGTGTTGGGTGTGTTTGGTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT	ENSP00000453958.2:n.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT
ENST00000674301.2:c.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT	ENSP00000501333.2:n.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT
ENST00000684448.1:n.2264-59_2264-58insGTGTTGGGTGTGTTTGGTGTT
ENST00000316623.10:c.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT MANE Select	ENSP00000325527.5:n.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT
ENST00000316623.9:c.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT	ENSP00000325527.5:n.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT
ENST00000537463.6:c.637-10905_637-10904insGTGTTGGGTGTGTTTGGTGTT	ENSP00000440294.2:n.637-10905_637-10904insGTGTTGGGTGTGTTTGGTG...
NM_000138.4:c.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT , LRG_778t1:c.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT	NP_000129.3:n.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT
NM_000138.5:c.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT MANE Select	NP_000129.3:n.3590-59_3590-58insGTGTTGGGTGTGTTTGGTGTT