Canonical Allele Identifier: CA2175513361
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445176_48445184delinsATATATATG , CM000677.2:g.48445176_48445184delinsATATATATG GRCh38
NC_000015.9:g.48737373_48737381delinsATATATATG , CM000677.1:g.48737373_48737381delinsATATATATG GRCh37
NC_000015.8:g.46524665_46524673delinsATATATATG NCBI36
NG_008805.2:g.205605_205613delinsCATATATAT , LRG_778:g.205605_205613delinsCATATATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+192_5917+200delinsCATATATAT ENSP00000453958.2:n.5917+192_5917+200delinsCATATATAT
ENST00000674301.2:c.5917+192_5917+200delinsCATATATAT ENSP00000501333.2:n.5917+192_5917+200delinsCATATATAT
ENST00000684448.1:n.4591+192_4591+200delinsCATATATAT
ENST00000316623.10:c.5917+192_5917+200delinsCATATATAT MANE Select ENSP00000325527.5:n.5917+192_5917+200delinsCATATATAT
ENST00000674301.1:c.916+192_916+200delinsCATATATAT ENSP00000501333.1:n.916+192_916+200delinsCATATATAT
ENST00000316623.9:c.5917+192_5917+200delinsCATATATAT ENSP00000325527.5:n.5917+192_5917+200delinsCATATATAT
ENST00000537463.6:c.*1680+192_*1680+200delinsCATATATAT ENSP00000440294.2:n.*1680+192_*1680+200delinsCATATATAT
ENST00000559133.5:c.1224+192_1224+200delinsCATATATAT
ENST00000560820.1:n.37+192_37+200delinsCATATATAT
NM_000138.4:c.5917+192_5917+200delinsCATATATAT , LRG_778t1:c.5917+192_5917+200delinsCATATATAT NP_000129.3:n.5917+192_5917+200delinsCATATATAT
NM_000138.5:c.5917+192_5917+200delinsCATATATAT MANE Select NP_000129.3:n.5917+192_5917+200delinsCATATATAT
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