Canonical Allele Identifier: CA2740096627
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2948067
ClinVar RCV Id: RCV003806889
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48441719_48441720del , CM000677.2:g.48441719_48441720del GRCh38
NC_000015.9:g.48733916_48733917del , CM000677.1:g.48733916_48733917del GRCh37
NC_000015.8:g.46521208_46521209del NCBI36
NG_008805.2:g.209069_209070del , LRG_778:g.209069_209070del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.6163+1_6163+2del ENSP00000453958.2:n.6163+1_6163+2del
ENST00000674301.2:c.6163+1_6163+2del ENSP00000501333.2:n.6163+1_6163+2del
ENST00000316623.10:c.6163+1_6163+2del MANE Select ENSP00000325527.5:n.6163+1_6163+2del
ENST00000674301.1:c.1162+1_1162+2del ENSP00000501333.1:n.1162+1_1162+2del
ENST00000316623.9:c.6163+1_6163+2del ENSP00000325527.5:n.6163+1_6163+2del
ENST00000537463.6:c.*1926+1_*1926+2del ENSP00000440294.2:n.*1926+1_*1926+2del
ENST00000559133.5:c.1470+1_1470+2del
ENST00000560820.1:n.283+1_283+2del
NM_000138.4:c.6163+1_6163+2del , LRG_778t1:c.6163+1_6163+2del NP_000129.3:n.6163+1_6163+2del
NM_000138.5:c.6163+1_6163+2del MANE Select NP_000129.3:n.6163+1_6163+2del
Search 100 bp 5'
Search 100 bp 3'