Canonical Allele Identifier: CA2628334172

Gene: FBN1

Linked Data

• gnomAD v4: 15-48472457-T-TAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48472457_48472458insAAA , CM000677.2:g.48472457_48472458insAAA	GRCh38
NC_000015.9:g.48764654_48764655insAAA , CM000677.1:g.48764654_48764655insAAA	GRCh37
NC_000015.8:g.46551946_46551947insAAA	NCBI36
NG_008805.2:g.178331_178332insTTT , LRG_778:g.178331_178332insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.4336+93_4336+94insTTT	ENSP00000453958.2:n.4336+93_4336+94insTTT
ENST00000674301.2:c.4336+93_4336+94insTTT	ENSP00000501333.2:n.4336+93_4336+94insTTT
ENST00000683268.1:n.303+93_303+94insTTT
ENST00000684448.1:n.3010+93_3010+94insTTT
ENST00000316623.10:c.4336+93_4336+94insTTT MANE Select	ENSP00000325527.5:n.4336+93_4336+94insTTT
ENST00000316623.9:c.4336+93_4336+94insTTT	ENSP00000325527.5:n.4336+93_4336+94insTTT
ENST00000537463.6:c.*99+93_*99+94insTTT	ENSP00000440294.2:n.*99+93_*99+94insTTT
NM_000138.4:c.4336+93_4336+94insTTT , LRG_778t1:c.4336+93_4336+94insTTT	NP_000129.3:n.4336+93_4336+94insTTT
NM_000138.5:c.4336+93_4336+94insTTT MANE Select	NP_000129.3:n.4336+93_4336+94insTTT