Canonical Allele Identifier: CA2175510065

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48484208_48484212delinsTTTCA , CM000677.2:g.48484208_48484212delinsTTTCA	GRCh38
NC_000015.9:g.48776405_48776409delinsTTTCA , CM000677.1:g.48776405_48776409delinsTTTCA	GRCh37
NC_000015.8:g.46563697_46563701delinsTTTCA	NCBI36
NG_008805.2:g.166577_166581delinsTGAAA , LRG_778:g.166577_166581delinsTGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3713-269_3713-265delinsTGAAA	ENSP00000453958.2:n.3713-269_3713-265delinsTGAAA
ENST00000674301.2:c.3713-269_3713-265delinsTGAAA	ENSP00000501333.2:n.3713-269_3713-265delinsTGAAA
ENST00000684448.1:n.2387-269_2387-265delinsTGAAA
ENST00000316623.10:c.3713-269_3713-265delinsTGAAA MANE Select	ENSP00000325527.5:n.3713-269_3713-265delinsTGAAA
ENST00000316623.9:c.3713-269_3713-265delinsTGAAA	ENSP00000325527.5:n.3713-269_3713-265delinsTGAAA
ENST00000537463.6:c.637-9562_637-9558delinsTGAAA	ENSP00000440294.2:n.637-9562_637-9558delinsTGAAA
NM_000138.4:c.3713-269_3713-265delinsTGAAA , LRG_778t1:c.3713-269_3713-265delinsTGAAA	NP_000129.3:n.3713-269_3713-265delinsTGAAA
NM_000138.5:c.3713-269_3713-265delinsTGAAA MANE Select	NP_000129.3:n.3713-269_3713-265delinsTGAAA