Canonical Allele Identifier: CA2175509636
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48483896_48483897delinsAC , CM000677.2:g.48483896_48483897delinsAC GRCh38
NC_000015.9:g.48776093_48776094delinsAC , CM000677.1:g.48776093_48776094delinsAC GRCh37
NC_000015.8:g.46563385_46563386delinsAC NCBI36
NG_008805.2:g.166892_166893delinsGT , LRG_778:g.166892_166893delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.3759_3760delinsGT ENSP00000453958.2:p.Gln1253=
ENST00000674301.2:c.3759_3760delinsGT ENSP00000501333.2:p.Gln1253=
ENST00000684448.1:n.2433_2434delinsGT
ENST00000316623.10:c.3759_3760delinsGT MANE Select ENSP00000325527.5:p.Gln1253=
ENST00000316623.9:c.3759_3760delinsGT ENSP00000325527.5:p.Gln1253=
ENST00000537463.6:c.637-9247_637-9246delinsGT ENSP00000440294.2:n.637-9247_637-9246delinsGT
NM_000138.4:c.3759_3760delinsGT , LRG_778t1:c.3759_3760delinsGT NP_000129.3:p.Gln1253=
NM_000138.5:c.3759_3760delinsGT MANE Select NP_000129.3:p.Gln1253=
Search 100 bp 5'
Search 100 bp 3'