Canonical Allele Identifier: CA2175495579
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474382_48474384delinsTAG , CM000677.2:g.48474382_48474384delinsTAG GRCh38
NC_000015.9:g.48766579_48766581delinsTAG , CM000677.1:g.48766579_48766581delinsTAG GRCh37
NC_000015.8:g.46553871_46553873delinsTAG NCBI36
NG_008805.2:g.176405_176407delinsCTA , LRG_778:g.176405_176407delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-7_4088-5delinsCTA ENSP00000453958.2:n.4088-7_4088-5delinsCTA
ENST00000674301.2:c.4088-7_4088-5delinsCTA ENSP00000501333.2:n.4088-7_4088-5delinsCTA
ENST00000684448.1:n.2762-7_2762-5delinsCTA
ENST00000316623.10:c.4088-7_4088-5delinsCTA MANE Select ENSP00000325527.5:n.4088-7_4088-5delinsCTA
ENST00000316623.9:c.4088-7_4088-5delinsCTA ENSP00000325527.5:n.4088-7_4088-5delinsCTA
ENST00000537463.6:c.760-7_760-5delinsCTA ENSP00000440294.2:n.760-7_760-5delinsCTA
NM_000138.4:c.4088-7_4088-5delinsCTA , LRG_778t1:c.4088-7_4088-5delinsCTA NP_000129.3:n.4088-7_4088-5delinsCTA
NM_000138.5:c.4088-7_4088-5delinsCTA MANE Select NP_000129.3:n.4088-7_4088-5delinsCTA
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