Canonical Allele Identifier: CA2175509937

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484105_48484106delinsTC , CM000677.2:g.48484105_48484106delinsTC	GRCh38
NC_000015.9:g.48776302_48776303delinsTC , CM000677.1:g.48776302_48776303delinsTC	GRCh37
NC_000015.8:g.46563594_46563595delinsTC	NCBI36
NG_008805.2:g.166683_166684delinsGA , LRG_778:g.166683_166684delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-163_3713-162delinsGA	ENSP00000453958.2:n.3713-163_3713-162delinsGA
ENST00000674301.2:c.3713-163_3713-162delinsGA	ENSP00000501333.2:n.3713-163_3713-162delinsGA
ENST00000684448.1:n.2387-163_2387-162delinsGA
ENST00000316623.10:c.3713-163_3713-162delinsGA MANE Select	ENSP00000325527.5:n.3713-163_3713-162delinsGA
ENST00000316623.9:c.3713-163_3713-162delinsGA	ENSP00000325527.5:n.3713-163_3713-162delinsGA
ENST00000537463.6:c.637-9456_637-9455delinsGA	ENSP00000440294.2:n.637-9456_637-9455delinsGA
NM_000138.4:c.3713-163_3713-162delinsGA , LRG_778t1:c.3713-163_3713-162delinsGA	NP_000129.3:n.3713-163_3713-162delinsGA
NM_000138.5:c.3713-163_3713-162delinsGA MANE Select	NP_000129.3:n.3713-163_3713-162delinsGA