Canonical Allele Identifier: CA2175508991

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441803_48441804delinsGC , CM000677.2:g.48441803_48441804delinsGC	GRCh38
NC_000015.9:g.48734000_48734001delinsGC , CM000677.1:g.48734000_48734001delinsGC	GRCh37
NC_000015.8:g.46521292_46521293delinsGC	NCBI36
NG_008805.2:g.208985_208986delinsGC , LRG_778:g.208985_208986delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6080_6081delinsGC	ENSP00000453958.2:p.Gly2027=
ENST00000674301.2:c.6080_6081delinsGC	ENSP00000501333.2:p.Gly2027=
ENST00000316623.10:c.6080_6081delinsGC MANE Select	ENSP00000325527.5:p.Gly2027=
ENST00000674301.1:c.1079_1080delinsGC	ENSP00000501333.1:p.Gly360=
ENST00000316623.9:c.6080_6081delinsGC	ENSP00000325527.5:p.Gly2027=
ENST00000537463.6:c.*1843_*1844delinsGC	ENSP00000440294.2:n.*1843_*1844delinsGC
ENST00000559133.5:c.1387_1388delinsGC
ENST00000560820.1:n.200_201delinsGC
NM_000138.4:c.6080_6081delinsGC , LRG_778t1:c.6080_6081delinsGC	NP_000129.3:p.Gly2027=
NM_000138.5:c.6080_6081delinsGC MANE Select	NP_000129.3:p.Gly2027=