Canonical Allele Identifier: CA2175527173

Gene: FBN1

Linked Data

• dbSNP Id: rs2043694576

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48504813_48504814insTTGGAAAC , CM000677.2:g.48504813_48504814insTTGGAAAC	GRCh38
NC_000015.9:g.48797010_48797011insTTGGAAAC , CM000677.1:g.48797010_48797011insTTGGAAAC	GRCh37
NC_000015.8:g.46584302_46584303insTTGGAAAC	NCBI36
NG_008805.2:g.145975_145976insGTTTCCAA , LRG_778:g.145975_145976insGTTTCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.1960+211_1960+212insGTTTCCAA	ENSP00000453958.2:n.1960+211_1960+212insGTTTCCAA
ENST00000674301.2:c.1960+211_1960+212insGTTTCCAA	ENSP00000501333.2:n.1960+211_1960+212insGTTTCCAA
ENST00000684448.1:n.634+211_634+212insGTTTCCAA
ENST00000316623.10:c.1960+211_1960+212insGTTTCCAA MANE Select	ENSP00000325527.5:n.1960+211_1960+212insGTTTCCAA
ENST00000316623.9:c.1960+211_1960+212insGTTTCCAA	ENSP00000325527.5:n.1960+211_1960+212insGTTTCCAA
ENST00000537463.6:c.637-30164_637-30163insGTTTCCAA	ENSP00000440294.2:n.637-30164_637-30163insGTTTCCAA
NM_000138.4:c.1960+211_1960+212insGTTTCCAA , LRG_778t1:c.1960+211_1960+212insGTTTCCAA	NP_000129.3:n.1960+211_1960+212insGTTTCCAA
NM_000138.5:c.1960+211_1960+212insGTTTCCAA MANE Select	NP_000129.3:n.1960+211_1960+212insGTTTCCAA