Canonical Allele Identifier: CA2695220234

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445447_48445449del , CM000677.2:g.48445447_48445449del	GRCh38
NC_000015.9:g.48737644_48737646del , CM000677.1:g.48737644_48737646del	GRCh37
NC_000015.8:g.46524936_46524938del	NCBI36
NG_008805.2:g.205342_205344del , LRG_778:g.205342_205344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5846_5848del	ENSP00000453958.2:p.Asn1949del
ENST00000674301.2:c.5846_5848del	ENSP00000501333.2:p.Asn1949del
ENST00000684448.1:n.4520_4522del
ENST00000316623.10:c.5846_5848del MANE Select	ENSP00000325527.5:p.Asn1949del
ENST00000674301.1:c.845_847del	ENSP00000501333.1:p.Asn282del
ENST00000316623.9:c.5846_5848del	ENSP00000325527.5:p.Asn1949del
ENST00000537463.6:c.*1609_*1611del	ENSP00000440294.2:n.*1609_*1611del
ENST00000559133.5:c.1153_1155del
NM_000138.4:c.5846_5848del , LRG_778t1:c.5846_5848del	NP_000129.3:p.Asn1949del
NM_000138.5:c.5846_5848del MANE Select	NP_000129.3:p.Asn1949del