Canonical Allele Identifier: CA2628347640

Gene: FBN1

Linked Data

• gnomAD v4: 15-48445509-A-AGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445510_48445511insCGG , CM000677.2:g.48445510_48445511insCGG	GRCh38
NC_000015.9:g.48737707_48737708insCGG , CM000677.1:g.48737707_48737708insCGG	GRCh37
NC_000015.8:g.46524999_46525000insCGG	NCBI36
NG_008805.2:g.205279_205280insCGC , LRG_778:g.205279_205280insCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5789-6_5789-5insCGC	ENSP00000453958.2:n.5789-6_5789-5insCGC
ENST00000674301.2:c.5789-6_5789-5insCGC	ENSP00000501333.2:n.5789-6_5789-5insCGC
ENST00000684448.1:n.4463-6_4463-5insCGC
ENST00000316623.10:c.5789-6_5789-5insCGC MANE Select	ENSP00000325527.5:n.5789-6_5789-5insCGC
ENST00000674301.1:c.788-6_788-5insCGC	ENSP00000501333.1:n.788-6_788-5insCGC
ENST00000316623.9:c.5789-6_5789-5insCGC	ENSP00000325527.5:n.5789-6_5789-5insCGC
ENST00000537463.6:c.*1552-6_*1552-5insCGC	ENSP00000440294.2:n.*1552-6_*1552-5insCGC
ENST00000559133.5:c.1096-6_1096-5insCGC
NM_000138.4:c.5789-6_5789-5insCGC , LRG_778t1:c.5789-6_5789-5insCGC	NP_000129.3:n.5789-6_5789-5insCGC
NM_000138.5:c.5789-6_5789-5insCGC MANE Select	NP_000129.3:n.5789-6_5789-5insCGC