Canonical Allele Identifier: CA2175495978
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474558_48474559delinsCG , CM000677.2:g.48474558_48474559delinsCG GRCh38
NC_000015.9:g.48766755_48766756delinsCG , CM000677.1:g.48766755_48766756delinsCG GRCh37
NC_000015.8:g.46554047_46554048delinsCG NCBI36
NG_008805.2:g.176230_176231delinsCG , LRG_778:g.176230_176231delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4056_4057delinsCG ENSP00000453958.2:p.Pro1352=
ENST00000674301.2:c.4056_4057delinsCG ENSP00000501333.2:p.Pro1352=
ENST00000684448.1:n.2730_2731delinsCG
ENST00000316623.10:c.4056_4057delinsCG MANE Select ENSP00000325527.5:p.Pro1352=
ENST00000316623.9:c.4056_4057delinsCG ENSP00000325527.5:p.Pro1352=
ENST00000537463.6:c.728_729delinsCG ENSP00000440294.2:p.Pro243=
NM_000138.4:c.4056_4057delinsCG , LRG_778t1:c.4056_4057delinsCG NP_000129.3:p.Pro1352=
NM_000138.5:c.4056_4057delinsCG MANE Select NP_000129.3:p.Pro1352=
Search 100 bp 5'
Search 100 bp 3'