Canonical Allele Identifier: CA2175511966
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48485462_48485463delinsAC , CM000677.2:g.48485462_48485463delinsAC GRCh38
NC_000015.9:g.48777659_48777660delinsAC , CM000677.1:g.48777659_48777660delinsAC GRCh37
NC_000015.8:g.46564951_46564952delinsAC NCBI36
NG_008805.2:g.165326_165327delinsGT , LRG_778:g.165326_165327delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3623_3624delinsGT ENSP00000453958.2:p.Cys1208=
ENST00000674301.2:c.3623_3624delinsGT ENSP00000501333.2:p.Cys1208=
ENST00000684448.1:n.2297_2298delinsGT
ENST00000316623.10:c.3623_3624delinsGT MANE Select ENSP00000325527.5:p.Cys1208=
ENST00000316623.9:c.3623_3624delinsGT ENSP00000325527.5:p.Cys1208=
ENST00000537463.6:c.637-10813_637-10812delinsGT ENSP00000440294.2:n.637-10813_637-10812delinsGT
NM_000138.4:c.3623_3624delinsGT , LRG_778t1:c.3623_3624delinsGT NP_000129.3:p.Cys1208=
NM_000138.5:c.3623_3624delinsGT MANE Select NP_000129.3:p.Cys1208=
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