Canonical Allele Identifier: CA2804071485

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487513_48487514insACACA , CM000677.2:g.48487513_48487514insACACA	GRCh38
NC_000015.9:g.48779710_48779711insACACA , CM000677.1:g.48779710_48779711insACACA	GRCh37
NC_000015.8:g.46567002_46567003insACACA	NCBI36
NG_008805.2:g.163277_163278insTGTTG , LRG_778:g.163277_163278insTGTTG

Transcript Alleles

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