Canonical Allele Identifier: CA969557327
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2044667700
gnomAD v3: 15-48612888-TGGAAGGCTG-T
gnomAD v4: 15-48612888-TGGAAGGCTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48612889_48612897del , CM000677.2:g.48612889_48612897del GRCh38
NC_000015.9:g.48905086_48905094del , CM000677.1:g.48905086_48905094del GRCh37
NC_000015.8:g.46692378_46692386del NCBI36
NG_008805.2:g.37892_37900del , LRG_778:g.37892_37900del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.247+113_247+121del ENSP00000453958.2:n.247+113_247+121del
ENST00000674301.2:c.247+113_247+121del ENSP00000501333.2:n.247+113_247+121del
ENST00000316623.10:c.247+113_247+121del MANE Select ENSP00000325527.5:n.247+113_247+121del
ENST00000316623.9:c.247+113_247+121del ENSP00000325527.5:n.247+113_247+121del
ENST00000537463.6:c.247+113_247+121del ENSP00000440294.2:n.247+113_247+121del
NM_000138.4:c.247+113_247+121del , LRG_778t1:c.247+113_247+121del NP_000129.3:n.247+113_247+121del
NM_000138.5:c.247+113_247+121del MANE Select NP_000129.3:n.247+113_247+121del
Search 100 bp 5'
Search 100 bp 3'