Canonical Allele Identifier: CA969550473
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs2043145485
gnomAD v3: 15-48445160-A-ATATATATG
gnomAD v4: 15-48445160-A-ATATATATG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445167_48445168insGTATATAT , CM000677.2:g.48445167_48445168insGTATATAT GRCh38
NC_000015.9:g.48737364_48737365insGTATATAT , CM000677.1:g.48737364_48737365insGTATATAT GRCh37
NC_000015.8:g.46524656_46524657insGTATATAT NCBI36
NG_008805.2:g.205628_205629insCATATATA , LRG_778:g.205628_205629insCATATATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+215_5917+216insCATATATA ENSP00000453958.2:n.5917+215_5917+216insCATATATA
ENST00000674301.2:c.5917+215_5917+216insCATATATA ENSP00000501333.2:n.5917+215_5917+216insCATATATA
ENST00000684448.1:n.4591+215_4591+216insCATATATA
ENST00000316623.10:c.5917+215_5917+216insCATATATA MANE Select ENSP00000325527.5:n.5917+215_5917+216insCATATATA
ENST00000674301.1:c.916+215_916+216insCATATATA ENSP00000501333.1:n.916+215_916+216insCATATATA
ENST00000316623.9:c.5917+215_5917+216insCATATATA ENSP00000325527.5:n.5917+215_5917+216insCATATATA
ENST00000537463.6:c.*1680+215_*1680+216insCATATATA ENSP00000440294.2:n.*1680+215_*1680+216insCATATATA
ENST00000559133.5:c.1224+215_1224+216insCATATATA
ENST00000560820.1:n.37+215_37+216insCATATATA
NM_000138.4:c.5917+215_5917+216insCATATATA , LRG_778t1:c.5917+215_5917+216insCATATATA NP_000129.3:n.5917+215_5917+216insCATATATA
NM_000138.5:c.5917+215_5917+216insCATATATA MANE Select NP_000129.3:n.5917+215_5917+216insCATATATA
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