Canonical Allele Identifier: CA2175508318

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441521_48441522delinsAC , CM000677.2:g.48441521_48441522delinsAC	GRCh38
NC_000015.9:g.48733718_48733719delinsAC , CM000677.1:g.48733718_48733719delinsAC	GRCh37
NC_000015.8:g.46521010_46521011delinsAC	NCBI36
NG_008805.2:g.209267_209268delinsGT , LRG_778:g.209267_209268delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6163+199_6163+200delinsGT	ENSP00000453958.2:n.6163+199_6163+200delinsGT
ENST00000674301.2:c.6163+199_6163+200delinsGT	ENSP00000501333.2:n.6163+199_6163+200delinsGT
ENST00000316623.10:c.6163+199_6163+200delinsGT MANE Select	ENSP00000325527.5:n.6163+199_6163+200delinsGT
ENST00000674301.1:c.1162+199_1162+200delinsGT	ENSP00000501333.1:n.1162+199_1162+200delinsGT
ENST00000316623.9:c.6163+199_6163+200delinsGT	ENSP00000325527.5:n.6163+199_6163+200delinsGT
ENST00000537463.6:c.*1926+199_*1926+200delinsGT	ENSP00000440294.2:n.*1926+199_*1926+200delinsGT
ENST00000559133.5:c.1470+199_1470+200delinsGT
ENST00000560820.1:n.283+199_283+200delinsGT
NM_000138.4:c.6163+199_6163+200delinsGT , LRG_778t1:c.6163+199_6163+200delinsGT	NP_000129.3:n.6163+199_6163+200delinsGT
NM_000138.5:c.6163+199_6163+200delinsGT MANE Select	NP_000129.3:n.6163+199_6163+200delinsGT