Canonical Allele Identifier: CA16614418

Gene: FBN1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48463212del , CM000677.2:g.48463212del	GRCh38
NC_000015.9:g.48755409del , CM000677.1:g.48755409del	GRCh37
NC_000015.8:g.46542701del	NCBI36
NG_008805.2:g.187577del , LRG_778:g.187577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5094del	ENSP00000453958.2:p.Tyr1699ThrfsTer16
ENST00000674301.2:c.5094del	ENSP00000501333.2:p.Tyr1699ThrfsTer16
ENST00000684448.1:n.3768del
ENST00000316623.10:c.5094del MANE Select	ENSP00000325527.5:p.Tyr1699ThrfsTer16
ENST00000674301.1:c.93del	ENSP00000501333.1:p.Tyr32ThrfsTer16
ENST00000316623.9:c.5094del	ENSP00000325527.5:p.Tyr1699ThrfsTer16
ENST00000537463.6:c.*857del	ENSP00000440294.2:n.*857del
ENST00000559133.5:c.401del
NM_000138.4:c.5094del , LRG_778t1:c.5094del	NP_000129.3:p.Tyr1699ThrfsTer16
NM_000138.5:c.5094del MANE Select	NP_000129.3:p.Tyr1699ThrfsTer16