Canonical Allele Identifier: CA2175494646
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043161290
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48446629del , CM000677.2:g.48446629del GRCh38
NC_000015.9:g.48738826del , CM000677.1:g.48738826del GRCh37
NC_000015.8:g.46526118del NCBI36
NG_008805.2:g.204160del , LRG_778:g.204160del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.5788+77del ENSP00000453958.2:n.5788+77del
ENST00000674301.2:c.5788+77del ENSP00000501333.2:n.5788+77del
ENST00000684448.1:n.4462+77del
ENST00000316623.10:c.5788+77del MANE Select ENSP00000325527.5:n.5788+77del
ENST00000674301.1:c.787+77del ENSP00000501333.1:n.787+77del
ENST00000316623.9:c.5788+77del ENSP00000325527.5:n.5788+77del
ENST00000537463.6:c.*1551+77del ENSP00000440294.2:n.*1551+77del
ENST00000559133.5:c.1095+77del
NM_000138.4:c.5788+77del , LRG_778t1:c.5788+77del NP_000129.3:n.5788+77del
NM_000138.5:c.5788+77del MANE Select NP_000129.3:n.5788+77del
Search 100 bp 5'
Search 100 bp 3'