Canonical Allele Identifier: CA2175508749

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441754_48441755delinsAC , CM000677.2:g.48441754_48441755delinsAC	GRCh38
NC_000015.9:g.48733951_48733952delinsAC , CM000677.1:g.48733951_48733952delinsAC	GRCh37
NC_000015.8:g.46521243_46521244delinsAC	NCBI36
NG_008805.2:g.209034_209035delinsGT , LRG_778:g.209034_209035delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6129_6130delinsGT	ENSP00000453958.2:p.Gly2043=
ENST00000674301.2:c.6129_6130delinsGT	ENSP00000501333.2:p.Gly2043=
ENST00000316623.10:c.6129_6130delinsGT MANE Select	ENSP00000325527.5:p.Gly2043=
ENST00000674301.1:c.1128_1129delinsGT	ENSP00000501333.1:p.Gly376=
ENST00000316623.9:c.6129_6130delinsGT	ENSP00000325527.5:p.Gly2043=
ENST00000537463.6:c.*1892_*1893delinsGT	ENSP00000440294.2:n.*1892_*1893delinsGT
ENST00000559133.5:c.1436_1437delinsGT
ENST00000560820.1:n.249_250delinsGT
NM_000138.4:c.6129_6130delinsGT , LRG_778t1:c.6129_6130delinsGT	NP_000129.3:p.Gly2043=
NM_000138.5:c.6129_6130delinsGT MANE Select	NP_000129.3:p.Gly2043=