Canonical Allele Identifier: CA2175510072

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484211_48484216delinsCATTTA , CM000677.2:g.48484211_48484216delinsCATTTA	GRCh38
NC_000015.9:g.48776408_48776413delinsCATTTA , CM000677.1:g.48776408_48776413delinsCATTTA	GRCh37
NC_000015.8:g.46563700_46563705delinsCATTTA	NCBI36
NG_008805.2:g.166573_166578delinsTAAATG , LRG_778:g.166573_166578delinsTAAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-273_3713-268delinsTAAATG	ENSP00000453958.2:n.3713-273_3713-268delinsTAAATG
ENST00000674301.2:c.3713-273_3713-268delinsTAAATG	ENSP00000501333.2:n.3713-273_3713-268delinsTAAATG
ENST00000684448.1:n.2387-273_2387-268delinsTAAATG
ENST00000316623.10:c.3713-273_3713-268delinsTAAATG MANE Select	ENSP00000325527.5:n.3713-273_3713-268delinsTAAATG
ENST00000316623.9:c.3713-273_3713-268delinsTAAATG	ENSP00000325527.5:n.3713-273_3713-268delinsTAAATG
ENST00000537463.6:c.637-9566_637-9561delinsTAAATG	ENSP00000440294.2:n.637-9566_637-9561delinsTAAATG
NM_000138.4:c.3713-273_3713-268delinsTAAATG , LRG_778t1:c.3713-273_3713-268delinsTAAATG	NP_000129.3:n.3713-273_3713-268delinsTAAATG
NM_000138.5:c.3713-273_3713-268delinsTAAATG MANE Select	NP_000129.3:n.3713-273_3713-268delinsTAAATG