Canonical Allele Identifier: CA2175513534
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445206_48445211delinsATGTGT , CM000677.2:g.48445206_48445211delinsATGTGT GRCh38
NC_000015.9:g.48737403_48737408delinsATGTGT , CM000677.1:g.48737403_48737408delinsATGTGT GRCh37
NC_000015.8:g.46524695_46524700delinsATGTGT NCBI36
NG_008805.2:g.205578_205583delinsACACAT , LRG_778:g.205578_205583delinsACACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+165_5917+170delinsACACAT ENSP00000453958.2:n.5917+165_5917+170delinsACACAT
ENST00000674301.2:c.5917+165_5917+170delinsACACAT ENSP00000501333.2:n.5917+165_5917+170delinsACACAT
ENST00000684448.1:n.4591+165_4591+170delinsACACAT
ENST00000316623.10:c.5917+165_5917+170delinsACACAT MANE Select ENSP00000325527.5:n.5917+165_5917+170delinsACACAT
ENST00000674301.1:c.916+165_916+170delinsACACAT ENSP00000501333.1:n.916+165_916+170delinsACACAT
ENST00000316623.9:c.5917+165_5917+170delinsACACAT ENSP00000325527.5:n.5917+165_5917+170delinsACACAT
ENST00000537463.6:c.*1680+165_*1680+170delinsACACAT ENSP00000440294.2:n.*1680+165_*1680+170delinsACACAT
ENST00000559133.5:c.1224+165_1224+170delinsACACAT
ENST00000560820.1:n.37+165_37+170delinsACACAT
NM_000138.4:c.5917+165_5917+170delinsACACAT , LRG_778t1:c.5917+165_5917+170delinsACACAT NP_000129.3:n.5917+165_5917+170delinsACACAT
NM_000138.5:c.5917+165_5917+170delinsACACAT MANE Select NP_000129.3:n.5917+165_5917+170delinsACACAT
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