Canonical Allele Identifier: CA2499222989
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072761
ClinVar RCV Id: RCV001385568
dbSNP Id: rs2141272855
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48468412_48468413del , CM000677.2:g.48468412_48468413del GRCh38
NC_000015.9:g.48760609_48760610del , CM000677.1:g.48760609_48760610del GRCh37
NC_000015.8:g.46547901_46547902del NCBI36
NG_008805.2:g.182376_182377del , LRG_778:g.182376_182377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4581_4582del ENSP00000453958.2:p.Asp1528TyrfsTer24
ENST00000674301.2:c.4581_4582del ENSP00000501333.2:p.Asp1528TyrfsTer24
ENST00000684448.1:n.3255_3256del
ENST00000316623.10:c.4581_4582del MANE Select ENSP00000325527.5:p.Asp1528TyrfsTer24
ENST00000316623.9:c.4581_4582del ENSP00000325527.5:p.Asp1528TyrfsTer24
ENST00000537463.6:c.*344_*345del ENSP00000440294.2:n.*344_*345del
NM_000138.4:c.4581_4582del , LRG_778t1:c.4581_4582del NP_000129.3:p.Asp1528TyrfsTer24
NM_000138.5:c.4581_4582del MANE Select NP_000129.3:p.Asp1528TyrfsTer24
Search 100 bp 5'
Search 100 bp 3'