Canonical Allele Identifier: CA2804072117

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48490227_48490228insAAACACACCCAACA , CM000677.2:g.48490227_48490228insAAACACACCCAACA	GRCh38
NC_000015.9:g.48782424_48782425insAAACACACCCAACA , CM000677.1:g.48782424_48782425insAAACACACCCAACA	GRCh37
NC_000015.8:g.46569716_46569717insAAACACACCCAACA	NCBI36
NG_008805.2:g.160561_160562insTGTTGGGTGTGTTT , LRG_778:g.160561_160562insTGTTGGGTGTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.2855-150_2855-149insTGTTGGGTGTGTTT	ENSP00000453958.2:n.2855-150_2855-149insTGTTGGGTGTGTTT
ENST00000674301.2:c.2855-150_2855-149insTGTTGGGTGTGTTT	ENSP00000501333.2:n.2855-150_2855-149insTGTTGGGTGTGTTT
ENST00000684448.1:n.1529-150_1529-149insTGTTGGGTGTGTTT
ENST00000316623.10:c.2855-150_2855-149insTGTTGGGTGTGTTT MANE Select	ENSP00000325527.5:n.2855-150_2855-149insTGTTGGGTGTGTTT
ENST00000316623.9:c.2855-150_2855-149insTGTTGGGTGTGTTT	ENSP00000325527.5:n.2855-150_2855-149insTGTTGGGTGTGTTT
ENST00000537463.6:c.637-15578_637-15577insTGTTGGGTGTGTTT	ENSP00000440294.2:n.637-15578_637-15577insTGTTGGGTGTGTTT
NM_000138.4:c.2855-150_2855-149insTGTTGGGTGTGTTT , LRG_778t1:c.2855-150_2855-149insTGTTGGGTGTGTTT	NP_000129.3:n.2855-150_2855-149insTGTTGGGTGTGTTT
NM_000138.5:c.2855-150_2855-149insTGTTGGGTGTGTTT MANE Select	NP_000129.3:n.2855-150_2855-149insTGTTGGGTGTGTTT