Canonical Allele Identifier: CA2175513310
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445173_48445187delinsCATATATATATGTAT , CM000677.2:g.48445173_48445187delinsCATATATATATGTAT GRCh38
NC_000015.9:g.48737370_48737384delinsCATATATATATGTAT , CM000677.1:g.48737370_48737384delinsCATATATATATGTAT GRCh37
NC_000015.8:g.46524662_46524676delinsCATATATATATGTAT NCBI36
NG_008805.2:g.205602_205616delinsATACATATATATATG , LRG_778:g.205602_205616delinsATACATATATATATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+189_5917+203delinsATACATATATATATG ENSP00000453958.2:n.5917+189_5917+203delinsATACATATATATATG
ENST00000674301.2:c.5917+189_5917+203delinsATACATATATATATG ENSP00000501333.2:n.5917+189_5917+203delinsATACATATATATATG
ENST00000684448.1:n.4591+189_4591+203delinsATACATATATATATG
ENST00000316623.10:c.5917+189_5917+203delinsATACATATATATATG MANE Select ENSP00000325527.5:n.5917+189_5917+203delinsATACATATATATATG
ENST00000674301.1:c.916+189_916+203delinsATACATATATATATG ENSP00000501333.1:n.916+189_916+203delinsATACATATATATATG
ENST00000316623.9:c.5917+189_5917+203delinsATACATATATATATG ENSP00000325527.5:n.5917+189_5917+203delinsATACATATATATATG
ENST00000537463.6:c.*1680+189_*1680+203delinsATACATATATATATG ENSP00000440294.2:n.*1680+189_*1680+203delinsATACATATATATATG
ENST00000559133.5:c.1224+189_1224+203delinsATACATATATATATG
ENST00000560820.1:n.37+189_37+203delinsATACATATATATATG
NM_000138.4:c.5917+189_5917+203delinsATACATATATATATG , LRG_778t1:c.5917+189_5917+203delinsATACATATATATATG NP_000129.3:n.5917+189_5917+203delinsATACATATATATATG
NM_000138.5:c.5917+189_5917+203delinsATACATATATATATG MANE Select NP_000129.3:n.5917+189_5917+203delinsATACATATATATATG
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