Canonical Allele Identifier: CA2519318869

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445220_48445221insGTATATATACACATATATATATATATGTGTATATATATGTGTATATATACT , CM000677.2:g.48445220_48445221insGTATATATACACATATATATATATATGTGTATATATATGTGTATATATACT	GRCh38
NC_000015.9:g.48737417_48737418insGTATATATACACATATATATATATATGTGTATATATATGTGTATATATACT , CM000677.1:g.48737417_48737418insGTATATATACACATATATATATATATGTGTATATATATGTGTATATATACT	GRCh37
NC_000015.8:g.46524709_46524710insGTATATATACACATATATATATATATGTGTATATATATGTGTATATATACT	NCBI36
NG_008805.2:g.205590_205591insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA , LRG_778:g.205590_205591insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+177_5917+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA	ENSP00000453958.2:n.5917+177_5917+178insCACATATATATATATATGTGT...
ENST00000674301.2:c.5917+177_5917+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA	ENSP00000501333.2:n.5917+177_5917+178insCACATATATATATATATGTGT...
ENST00000684448.1:n.4591+177_4591+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA
ENST00000316623.10:c.5917+177_5917+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA MANE Select	ENSP00000325527.5:n.5917+177_5917+178insCACATATATATATATATGTGT...
ENST00000674301.1:c.916+177_916+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA	ENSP00000501333.1:n.916+177_916+178insCACATATATATATATATGTGTAT...
ENST00000316623.9:c.5917+177_5917+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA	ENSP00000325527.5:n.5917+177_5917+178insCACATATATATATATATGTGT...
ENST00000537463.6:c.*1680+177_*1680+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA	ENSP00000440294.2:n.*1680+177_*1680+178insCACATATATATATATATGT...
ENST00000559133.5:c.1224+177_1224+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA
ENST00000560820.1:n.37+177_37+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA
NM_000138.4:c.5917+177_5917+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA , LRG_778t1:c.5917+177_5917+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA	NP_000129.3:n.5917+177_5917+178insCACATATATATATATATGTGTATATAT...
NM_000138.5:c.5917+177_5917+178insCACATATATATATATATGTGTATATATACAGTATATATACACATATATATA MANE Select	NP_000129.3:n.5917+177_5917+178insCACATATATATATATATGTGTATATAT...