Canonical Allele Identifier: CA2175513285
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043145609
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445168_48445169insTACACA , CM000677.2:g.48445168_48445169insTACACA GRCh38
NC_000015.9:g.48737365_48737366insTACACA , CM000677.1:g.48737365_48737366insTACACA GRCh37
NC_000015.8:g.46524657_46524658insTACACA NCBI36
NG_008805.2:g.205621_205622insGTGTAT , LRG_778:g.205621_205622insGTGTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+208_5917+209insGTGTAT ENSP00000453958.2:n.5917+208_5917+209insGTGTAT
ENST00000674301.2:c.5917+208_5917+209insGTGTAT ENSP00000501333.2:n.5917+208_5917+209insGTGTAT
ENST00000684448.1:n.4591+208_4591+209insGTGTAT
ENST00000316623.10:c.5917+208_5917+209insGTGTAT MANE Select ENSP00000325527.5:n.5917+208_5917+209insGTGTAT
ENST00000674301.1:c.916+208_916+209insGTGTAT ENSP00000501333.1:n.916+208_916+209insGTGTAT
ENST00000316623.9:c.5917+208_5917+209insGTGTAT ENSP00000325527.5:n.5917+208_5917+209insGTGTAT
ENST00000537463.6:c.*1680+208_*1680+209insGTGTAT ENSP00000440294.2:n.*1680+208_*1680+209insGTGTAT
ENST00000559133.5:c.1224+208_1224+209insGTGTAT
ENST00000560820.1:n.37+208_37+209insGTGTAT
NM_000138.4:c.5917+208_5917+209insGTGTAT , LRG_778t1:c.5917+208_5917+209insGTGTAT NP_000129.3:n.5917+208_5917+209insGTGTAT
NM_000138.5:c.5917+208_5917+209insGTGTAT MANE Select NP_000129.3:n.5917+208_5917+209insGTGTAT
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