Canonical Allele Identifier: CA2804071484

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487511_48487512insAAACCAAACACACCCAACA , CM000677.2:g.48487511_48487512insAAACCAAACACACCCAACA	GRCh38
NC_000015.9:g.48779708_48779709insAAACCAAACACACCCAACA , CM000677.1:g.48779708_48779709insAAACCAAACACACCCAACA	GRCh37
NC_000015.8:g.46567000_46567001insAAACCAAACACACCCAACA	NCBI36
NG_008805.2:g.163277_163278insTGTTGGGTGTGTTTGGTTT , LRG_778:g.163277_163278insTGTTGGGTGTGTTTGGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT	ENSP00000453958.2:n.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT
ENST00000674301.2:c.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT	ENSP00000501333.2:n.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT
ENST00000684448.1:n.2012-75_2012-74insTGTTGGGTGTGTTTGGTTT
ENST00000316623.10:c.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT MANE Select	ENSP00000325527.5:n.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT
ENST00000316623.9:c.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT	ENSP00000325527.5:n.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT
ENST00000537463.6:c.637-12862_637-12861insTGTTGGGTGTGTTTGGTTT	ENSP00000440294.2:n.637-12862_637-12861insTGTTGGGTGTGTTTGGTTT...
NM_000138.4:c.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT , LRG_778t1:c.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT	NP_000129.3:n.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT
NM_000138.5:c.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT MANE Select	NP_000129.3:n.3338-75_3338-74insTGTTGGGTGTGTTTGGTTT