Canonical Allele Identifier: CA2697549053

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2691176
• ClinVar RCV Id: RCV003486444

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445349_48445373del , CM000677.2:g.48445349_48445373del	GRCh38
NC_000015.9:g.48737546_48737570del , CM000677.1:g.48737546_48737570del	GRCh37
NC_000015.8:g.46524838_46524862del	NCBI36
NG_008805.2:g.205418_205442del , LRG_778:g.205418_205442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+5_5917+29del	ENSP00000453958.2:n.5917+5_5917+29del
ENST00000674301.2:c.5917+5_5917+29del	ENSP00000501333.2:n.5917+5_5917+29del
ENST00000684448.1:n.4591+5_4591+29del
ENST00000316623.10:c.5917+5_5917+29del MANE Select	ENSP00000325527.5:n.5917+5_5917+29del
ENST00000674301.1:c.916+5_916+29del	ENSP00000501333.1:n.916+5_916+29del
ENST00000316623.9:c.5917+5_5917+29del	ENSP00000325527.5:n.5917+5_5917+29del
ENST00000537463.6:c.*1680+5_*1680+29del	ENSP00000440294.2:n.*1680+5_*1680+29del
ENST00000559133.5:c.1224+5_1224+29del
ENST00000560820.1:n.37+5_37+29del
NM_000138.4:c.5917+5_5917+29del , LRG_778t1:c.5917+5_5917+29del	NP_000129.3:n.5917+5_5917+29del
NM_000138.5:c.5917+5_5917+29del MANE Select	NP_000129.3:n.5917+5_5917+29del