Canonical Allele Identifier: CA2695220223

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445402_48445412del , CM000677.2:g.48445402_48445412del	GRCh38
NC_000015.9:g.48737599_48737609del , CM000677.1:g.48737599_48737609del	GRCh37
NC_000015.8:g.46524891_46524901del	NCBI36
NG_008805.2:g.205381_205391del , LRG_778:g.205381_205391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5885_5895del	ENSP00000453958.2:p.Tyr1962SerfsTer11
ENST00000674301.2:c.5885_5895del	ENSP00000501333.2:p.Tyr1962SerfsTer11
ENST00000684448.1:n.4559_4569del
ENST00000316623.10:c.5885_5895del MANE Select	ENSP00000325527.5:p.Tyr1962SerfsTer11
ENST00000674301.1:c.884_894del	ENSP00000501333.1:p.Tyr295SerfsTer11
ENST00000316623.9:c.5885_5895del	ENSP00000325527.5:p.Tyr1962SerfsTer11
ENST00000537463.6:c.*1648_*1658del	ENSP00000440294.2:n.*1648_*1658del
ENST00000559133.5:c.1192_1202del
ENST00000560820.1:n.5_15del
NM_000138.4:c.5885_5895del , LRG_778t1:c.5885_5895del	NP_000129.3:p.Tyr1962SerfsTer11
NM_000138.5:c.5885_5895del MANE Select	NP_000129.3:p.Tyr1962SerfsTer11