Canonical Allele Identifier: CA2175521584
Gene: FBN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48490035_48490041delinsCTCCTCG , CM000677.2:g.48490035_48490041delinsCTCCTCG GRCh38
NC_000015.9:g.48782232_48782238delinsCTCCTCG , CM000677.1:g.48782232_48782238delinsCTCCTCG GRCh37
NC_000015.8:g.46569524_46569530delinsCTCCTCG NCBI36
NG_008805.2:g.160748_160754delinsCGAGGAG , LRG_778:g.160748_160754delinsCGAGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.2892_2898delinsCGAGGAG ENSP00000453958.2:p.Asp964=
ENST00000674301.2:c.2892_2898delinsCGAGGAG ENSP00000501333.2:p.Asp964=
ENST00000684448.1:n.1566_1572delinsCGAGGAG
ENST00000316623.10:c.2892_2898delinsCGAGGAG MANE Select ENSP00000325527.5:p.Asp964=
ENST00000316623.9:c.2892_2898delinsCGAGGAG ENSP00000325527.5:p.Asp964=
ENST00000537463.6:c.637-15391_637-15385delinsCGAGGAG ENSP00000440294.2:n.637-15391_637-15385delinsCGAGGAG
NM_000138.4:c.2892_2898delinsCGAGGAG , LRG_778t1:c.2892_2898delinsCGAGGAG NP_000129.3:p.Asp964=
NM_000138.5:c.2892_2898delinsCGAGGAG MANE Select NP_000129.3:p.Asp964=