Canonical Allele Identifier: CA2573150946

Gene: FBN1

Linked Data

• ClinVar Variation Id: 1523864
• ClinVar RCV Id: RCV002049009
• dbSNP Id: rs2141214499

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48415529_48415535del , CM000677.2:g.48415529_48415535del	GRCh38
NC_000015.9:g.48707726_48707732del , CM000677.1:g.48707726_48707732del	GRCh37
NC_000015.8:g.46495018_46495024del	NCBI36
NG_008805.2:g.235256_235262del , LRG_778:g.235256_235262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*859+3_*859+9del	ENSP00000453958.2:n.*859+3_*859+9del
ENST00000674301.2:c.*1564+3_*1564+9del	ENSP00000501333.2:n.*1564+3_*1564+9del
ENST00000682158.1:n.1432+3_1432+9del
ENST00000682170.1:n.2232+3_2232+9del
ENST00000682767.1:n.1348+3_1348+9del
ENST00000316623.10:c.8051+3_8051+9del MANE Select	ENSP00000325527.5:n.8051+3_8051+9del
ENST00000674301.1:c.3217+3_3217+9del	ENSP00000501333.1:n.3217+3_3217+9del
ENST00000316623.9:c.8051+3_8051+9del	ENSP00000325527.5:n.8051+3_8051+9del
ENST00000559133.5:c.3420+3_3420+9del
ENST00000561429.1:n.306+3_306+9del
NM_000138.4:c.8051+3_8051+9del , LRG_778t1:c.8051+3_8051+9del	NP_000129.3:n.8051+3_8051+9del
NM_000138.5:c.8051+3_8051+9del MANE Select	NP_000129.3:n.8051+3_8051+9del