Canonical Allele Identifier: CA2695220239

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445498_48445500del , CM000677.2:g.48445498_48445500del	GRCh38
NC_000015.9:g.48737695_48737697del , CM000677.1:g.48737695_48737697del	GRCh37
NC_000015.8:g.46524987_46524989del	NCBI36
NG_008805.2:g.205292_205294del , LRG_778:g.205292_205294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5796_5798del	ENSP00000453958.2:p.Asp1932del
ENST00000674301.2:c.5796_5798del	ENSP00000501333.2:p.Asp1932del
ENST00000684448.1:n.4470_4472del
ENST00000316623.10:c.5796_5798del MANE Select	ENSP00000325527.5:p.Asp1932del
ENST00000674301.1:c.795_797del	ENSP00000501333.1:p.Asp265del
ENST00000316623.9:c.5796_5798del	ENSP00000325527.5:p.Asp1932del
ENST00000537463.6:c.*1559_*1561del	ENSP00000440294.2:n.*1559_*1561del
ENST00000559133.5:c.1103_1105del
NM_000138.4:c.5796_5798del , LRG_778t1:c.5796_5798del	NP_000129.3:p.Asp1932del
NM_000138.5:c.5796_5798del MANE Select	NP_000129.3:p.Asp1932del