Canonical Allele Identifier: CA2573150765

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1452240
• ClinVar RCV Id: RCV001994503
• dbSNP Id: rs2141297097

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48489896del , CM000677.2:g.48489896del	GRCh38
NC_000015.9:g.48782093del , CM000677.1:g.48782093del	GRCh37
NC_000015.8:g.46569385del	NCBI36
NG_008805.2:g.160894del , LRG_778:g.160894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3038del	ENSP00000453958.2:p.Gly1013AspfsTer22
ENST00000674301.2:c.3038del	ENSP00000501333.2:p.Gly1013AspfsTer22
ENST00000684448.1:n.1712del
ENST00000316623.10:c.3038del MANE Select	ENSP00000325527.5:p.Gly1013AspfsTer22
ENST00000316623.9:c.3038del	ENSP00000325527.5:p.Gly1013AspfsTer22
ENST00000537463.6:c.637-15245del	ENSP00000440294.2:n.637-15245del
NM_000138.4:c.3038del , LRG_778t1:c.3038del	NP_000129.3:p.Gly1013AspfsTer22
NM_000138.5:c.3038del MANE Select	NP_000129.3:p.Gly1013AspfsTer22