Canonical Allele Identifier: CA2175513338
Gene: FBN1 HGNC NCBI

Linked Data

dbSNP Id: rs529269961
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445183_48445184insATACATATATATATATAT , CM000677.2:g.48445183_48445184insATACATATATATATATAT GRCh38
NC_000015.9:g.48737380_48737381insATACATATATATATATAT , CM000677.1:g.48737380_48737381insATACATATATATATATAT GRCh37
NC_000015.8:g.46524672_46524673insATACATATATATATATAT NCBI36
NG_008805.2:g.205615_205616insATATGTATATATATATAT , LRG_778:g.205615_205616insATATGTATATATATATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+202_5917+203insATATGTATATATATATAT ENSP00000453958.2:n.5917+202_5917+203insATATGTATATATATATAT
ENST00000674301.2:c.5917+202_5917+203insATATGTATATATATATAT ENSP00000501333.2:n.5917+202_5917+203insATATGTATATATATATAT
ENST00000684448.1:n.4591+202_4591+203insATATGTATATATATATAT
ENST00000316623.10:c.5917+202_5917+203insATATGTATATATATATAT MANE Select ENSP00000325527.5:n.5917+202_5917+203insATATGTATATATATATAT
ENST00000674301.1:c.916+202_916+203insATATGTATATATATATAT ENSP00000501333.1:n.916+202_916+203insATATGTATATATATATAT
ENST00000316623.9:c.5917+202_5917+203insATATGTATATATATATAT ENSP00000325527.5:n.5917+202_5917+203insATATGTATATATATATAT
ENST00000537463.6:c.*1680+202_*1680+203insATATGTATATATATATAT ENSP00000440294.2:n.*1680+202_*1680+203insATATGTATATATATATAT
ENST00000559133.5:c.1224+202_1224+203insATATGTATATATATATAT
ENST00000560820.1:n.37+202_37+203insATATGTATATATATATAT
NM_000138.4:c.5917+202_5917+203insATATGTATATATATATAT , LRG_778t1:c.5917+202_5917+203insATATGTATATATATATAT NP_000129.3:n.5917+202_5917+203insATATGTATATATATATAT
NM_000138.5:c.5917+202_5917+203insATATGTATATATATATAT MANE Select NP_000129.3:n.5917+202_5917+203insATATGTATATATATATAT
Search 100 bp 5'
Search 100 bp 3'