Canonical Allele Identifier: CA2175492271

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48425400_48425401delinsGT , CM000677.2:g.48425400_48425401delinsGT	GRCh38
NC_000015.9:g.48717597_48717598delinsGT , CM000677.1:g.48717597_48717598delinsGT	GRCh37
NC_000015.8:g.46504889_46504890delinsGT	NCBI36
NG_008805.2:g.225388_225389delinsAC , LRG_778:g.225388_225389delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*229_*230delinsAC	ENSP00000453958.2:n.*229_*230delinsAC
ENST00000674301.2:c.*934_*935delinsAC	ENSP00000501333.2:n.*934_*935delinsAC
ENST00000682170.1:n.1602_1603delinsAC
ENST00000682767.1:n.718_719delinsAC
ENST00000316623.10:c.7421_7422delinsAC MANE Select	ENSP00000325527.5:p.Tyr2474=
ENST00000674301.1:c.2587_2588delinsAC	ENSP00000501333.1:n.2587_2588delinsAC
ENST00000316623.9:c.7421_7422delinsAC	ENSP00000325527.5:p.Tyr2474=
ENST00000559133.5:c.2790_2791delinsAC
NM_000138.4:c.7421_7422delinsAC , LRG_778t1:c.7421_7422delinsAC	NP_000129.3:p.Tyr2474=
NM_000138.5:c.7421_7422delinsAC MANE Select	NP_000129.3:p.Tyr2474=