Canonical Allele Identifier: CA2175496161
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474581_48474583delinsCTT , CM000677.2:g.48474581_48474583delinsCTT GRCh38
NC_000015.9:g.48766778_48766780delinsCTT , CM000677.1:g.48766778_48766780delinsCTT GRCh37
NC_000015.8:g.46554070_46554072delinsCTT NCBI36
NG_008805.2:g.176206_176208delinsAAG , LRG_778:g.176206_176208delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4032_4034delinsAAG ENSP00000453958.2:p.Gly1344=
ENST00000674301.2:c.4032_4034delinsAAG ENSP00000501333.2:p.Gly1344=
ENST00000684448.1:n.2706_2708delinsAAG
ENST00000316623.10:c.4032_4034delinsAAG MANE Select ENSP00000325527.5:p.Gly1344=
ENST00000316623.9:c.4032_4034delinsAAG ENSP00000325527.5:p.Gly1344=
ENST00000537463.6:c.704_706delinsAAG ENSP00000440294.2:p.Glu235=
NM_000138.4:c.4032_4034delinsAAG , LRG_778t1:c.4032_4034delinsAAG NP_000129.3:p.Gly1344=
NM_000138.5:c.4032_4034delinsAAG MANE Select NP_000129.3:p.Gly1344=
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