Canonical Allele Identifier: CA2628338041

Gene: FBN1

Linked Data

• gnomAD v4: 15-48610703-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48610704_48610705insTTT , CM000677.2:g.48610704_48610705insTTT	GRCh38
NC_000015.9:g.48902901_48902902insTTT , CM000677.1:g.48902901_48902902insTTT	GRCh37
NC_000015.8:g.46690193_46690194insTTT	NCBI36
NG_008805.2:g.40085_40086insAAA , LRG_778:g.40085_40086insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.346+24_346+25insAAA	ENSP00000453958.2:n.346+24_346+25insAAA
ENST00000674301.2:c.346+24_346+25insAAA	ENSP00000501333.2:n.346+24_346+25insAAA
ENST00000316623.10:c.346+24_346+25insAAA MANE Select	ENSP00000325527.5:n.346+24_346+25insAAA
ENST00000316623.9:c.346+24_346+25insAAA	ENSP00000325527.5:n.346+24_346+25insAAA
ENST00000537463.6:c.346+24_346+25insAAA	ENSP00000440294.2:n.346+24_346+25insAAA
NM_000138.4:c.346+24_346+25insAAA , LRG_778t1:c.346+24_346+25insAAA	NP_000129.3:n.346+24_346+25insAAA
NM_000138.5:c.346+24_346+25insAAA MANE Select	NP_000129.3:n.346+24_346+25insAAA