Canonical Allele Identifier: CA2175508349

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441540_48441541delinsGT , CM000677.2:g.48441540_48441541delinsGT	GRCh38
NC_000015.9:g.48733737_48733738delinsGT , CM000677.1:g.48733737_48733738delinsGT	GRCh37
NC_000015.8:g.46521029_46521030delinsGT	NCBI36
NG_008805.2:g.209248_209249delinsAC , LRG_778:g.209248_209249delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6163+180_6163+181delinsAC	ENSP00000453958.2:n.6163+180_6163+181delinsAC
ENST00000674301.2:c.6163+180_6163+181delinsAC	ENSP00000501333.2:n.6163+180_6163+181delinsAC
ENST00000316623.10:c.6163+180_6163+181delinsAC MANE Select	ENSP00000325527.5:n.6163+180_6163+181delinsAC
ENST00000674301.1:c.1162+180_1162+181delinsAC	ENSP00000501333.1:n.1162+180_1162+181delinsAC
ENST00000316623.9:c.6163+180_6163+181delinsAC	ENSP00000325527.5:n.6163+180_6163+181delinsAC
ENST00000537463.6:c.*1926+180_*1926+181delinsAC	ENSP00000440294.2:n.*1926+180_*1926+181delinsAC
ENST00000559133.5:c.1470+180_1470+181delinsAC
ENST00000560820.1:n.283+180_283+181delinsAC
NM_000138.4:c.6163+180_6163+181delinsAC , LRG_778t1:c.6163+180_6163+181delinsAC	NP_000129.3:n.6163+180_6163+181delinsAC
NM_000138.5:c.6163+180_6163+181delinsAC MANE Select	NP_000129.3:n.6163+180_6163+181delinsAC