Canonical Allele Identifier: CA2175520402

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472455_48472456delinsGT , CM000677.2:g.48472455_48472456delinsGT	GRCh38
NC_000015.9:g.48764652_48764653delinsGT , CM000677.1:g.48764652_48764653delinsGT	GRCh37
NC_000015.8:g.46551944_46551945delinsGT	NCBI36
NG_008805.2:g.178333_178334delinsAC , LRG_778:g.178333_178334delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+95_4336+96delinsAC	ENSP00000453958.2:n.4336+95_4336+96delinsAC
ENST00000674301.2:c.4336+95_4336+96delinsAC	ENSP00000501333.2:n.4336+95_4336+96delinsAC
ENST00000683268.1:n.303+95_303+96delinsAC
ENST00000684448.1:n.3010+95_3010+96delinsAC
ENST00000316623.10:c.4336+95_4336+96delinsAC MANE Select	ENSP00000325527.5:n.4336+95_4336+96delinsAC
ENST00000316623.9:c.4336+95_4336+96delinsAC	ENSP00000325527.5:n.4336+95_4336+96delinsAC
ENST00000537463.6:c.*99+95_*99+96delinsAC	ENSP00000440294.2:n.*99+95_*99+96delinsAC
NM_000138.4:c.4336+95_4336+96delinsAC , LRG_778t1:c.4336+95_4336+96delinsAC	NP_000129.3:n.4336+95_4336+96delinsAC
NM_000138.5:c.4336+95_4336+96delinsAC MANE Select	NP_000129.3:n.4336+95_4336+96delinsAC