Canonical Allele Identifier: CA2175513320
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445173_48445179delinsCATATAT , CM000677.2:g.48445173_48445179delinsCATATAT GRCh38
NC_000015.9:g.48737370_48737376delinsCATATAT , CM000677.1:g.48737370_48737376delinsCATATAT GRCh37
NC_000015.8:g.46524662_46524668delinsCATATAT NCBI36
NG_008805.2:g.205610_205616delinsATATATG , LRG_778:g.205610_205616delinsATATATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+197_5917+203delinsATATATG ENSP00000453958.2:n.5917+197_5917+203delinsATATATG
ENST00000674301.2:c.5917+197_5917+203delinsATATATG ENSP00000501333.2:n.5917+197_5917+203delinsATATATG
ENST00000684448.1:n.4591+197_4591+203delinsATATATG
ENST00000316623.10:c.5917+197_5917+203delinsATATATG MANE Select ENSP00000325527.5:n.5917+197_5917+203delinsATATATG
ENST00000674301.1:c.916+197_916+203delinsATATATG ENSP00000501333.1:n.916+197_916+203delinsATATATG
ENST00000316623.9:c.5917+197_5917+203delinsATATATG ENSP00000325527.5:n.5917+197_5917+203delinsATATATG
ENST00000537463.6:c.*1680+197_*1680+203delinsATATATG ENSP00000440294.2:n.*1680+197_*1680+203delinsATATATG
ENST00000559133.5:c.1224+197_1224+203delinsATATATG
ENST00000560820.1:n.37+197_37+203delinsATATATG
NM_000138.4:c.5917+197_5917+203delinsATATATG , LRG_778t1:c.5917+197_5917+203delinsATATATG NP_000129.3:n.5917+197_5917+203delinsATATATG
NM_000138.5:c.5917+197_5917+203delinsATATATG MANE Select NP_000129.3:n.5917+197_5917+203delinsATATATG
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