Canonical Allele Identifier: CA2175513174
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48445151_48445157delinsTATATAC , CM000677.2:g.48445151_48445157delinsTATATAC GRCh38
NC_000015.9:g.48737348_48737354delinsTATATAC , CM000677.1:g.48737348_48737354delinsTATATAC GRCh37
NC_000015.8:g.46524640_46524646delinsTATATAC NCBI36
NG_008805.2:g.205632_205638delinsGTATATA , LRG_778:g.205632_205638delinsGTATATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5917+219_5917+225delinsGTATATA ENSP00000453958.2:n.5917+219_5917+225delinsGTATATA
ENST00000674301.2:c.5917+219_5917+225delinsGTATATA ENSP00000501333.2:n.5917+219_5917+225delinsGTATATA
ENST00000684448.1:n.4591+219_4591+225delinsGTATATA
ENST00000316623.10:c.5917+219_5917+225delinsGTATATA MANE Select ENSP00000325527.5:n.5917+219_5917+225delinsGTATATA
ENST00000674301.1:c.916+219_916+225delinsGTATATA ENSP00000501333.1:n.916+219_916+225delinsGTATATA
ENST00000316623.9:c.5917+219_5917+225delinsGTATATA ENSP00000325527.5:n.5917+219_5917+225delinsGTATATA
ENST00000537463.6:c.*1680+219_*1680+225delinsGTATATA ENSP00000440294.2:n.*1680+219_*1680+225delinsGTATATA
ENST00000559133.5:c.1224+219_1224+225delinsGTATATA
ENST00000560820.1:n.37+219_37+225delinsGTATATA
NM_000138.4:c.5917+219_5917+225delinsGTATATA , LRG_778t1:c.5917+219_5917+225delinsGTATATA NP_000129.3:n.5917+219_5917+225delinsGTATATA
NM_000138.5:c.5917+219_5917+225delinsGTATATA MANE Select NP_000129.3:n.5917+219_5917+225delinsGTATATA
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