Canonical Allele Identifier: CA919548736
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs1566906473
gnomAD v4: 15-48474382-TAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474384_48474385del , CM000677.2:g.48474384_48474385del GRCh38
NC_000015.9:g.48766581_48766582del , CM000677.1:g.48766581_48766582del GRCh37
NC_000015.8:g.46553873_46553874del NCBI36
NG_008805.2:g.176405_176406del , LRG_778:g.176405_176406del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-7_4088-6del ENSP00000453958.2:n.4088-7_4088-6del
ENST00000674301.2:c.4088-7_4088-6del ENSP00000501333.2:n.4088-7_4088-6del
ENST00000684448.1:n.2762-7_2762-6del
ENST00000316623.10:c.4088-7_4088-6del MANE Select ENSP00000325527.5:n.4088-7_4088-6del
ENST00000316623.9:c.4088-7_4088-6del ENSP00000325527.5:n.4088-7_4088-6del
ENST00000537463.6:c.760-7_760-6del ENSP00000440294.2:n.760-7_760-6del
NM_000138.4:c.4088-7_4088-6del , LRG_778t1:c.4088-7_4088-6del NP_000129.3:n.4088-7_4088-6del
NM_000138.5:c.4088-7_4088-6del MANE Select NP_000129.3:n.4088-7_4088-6del
Search 100 bp 5'
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