Canonical Allele Identifier: CA2175513483
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445197_48445203delinsCATATAT , CM000677.2:g.48445197_48445203delinsCATATAT GRCh38
NC_000015.9:g.48737394_48737400delinsCATATAT , CM000677.1:g.48737394_48737400delinsCATATAT GRCh37
NC_000015.8:g.46524686_46524692delinsCATATAT NCBI36
NG_008805.2:g.205586_205592delinsATATATG , LRG_778:g.205586_205592delinsATATATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+173_5917+179delinsATATATG ENSP00000453958.2:n.5917+173_5917+179delinsATATATG
ENST00000674301.2:c.5917+173_5917+179delinsATATATG ENSP00000501333.2:n.5917+173_5917+179delinsATATATG
ENST00000684448.1:n.4591+173_4591+179delinsATATATG
ENST00000316623.10:c.5917+173_5917+179delinsATATATG MANE Select ENSP00000325527.5:n.5917+173_5917+179delinsATATATG
ENST00000674301.1:c.916+173_916+179delinsATATATG ENSP00000501333.1:n.916+173_916+179delinsATATATG
ENST00000316623.9:c.5917+173_5917+179delinsATATATG ENSP00000325527.5:n.5917+173_5917+179delinsATATATG
ENST00000537463.6:c.*1680+173_*1680+179delinsATATATG ENSP00000440294.2:n.*1680+173_*1680+179delinsATATATG
ENST00000559133.5:c.1224+173_1224+179delinsATATATG
ENST00000560820.1:n.37+173_37+179delinsATATATG
NM_000138.4:c.5917+173_5917+179delinsATATATG , LRG_778t1:c.5917+173_5917+179delinsATATATG NP_000129.3:n.5917+173_5917+179delinsATATATG
NM_000138.5:c.5917+173_5917+179delinsATATATG MANE Select NP_000129.3:n.5917+173_5917+179delinsATATATG
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