Canonical Allele Identifier: CA2804070226
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48427477T>C , CM000677.2:g.48427477T>C GRCh38
NC_000015.9:g.48719674T>C , CM000677.1:g.48719674T>C GRCh37
NC_000015.8:g.46506966T>C NCBI36
NG_008805.2:g.223312A>G , LRG_778:g.223312A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.*12+90A>G ENSP00000453958.2:n.*12+90A>G
ENST00000674301.2:c.*717+90A>G ENSP00000501333.2:n.*717+90A>G
ENST00000682170.1:n.1385+90A>G
ENST00000682767.1:n.501+90A>G
ENST00000316623.10:c.7204+90A>G MANE Select ENSP00000325527.5:n.7204+90A>G
ENST00000674301.1:c.2370+90A>G ENSP00000501333.1:n.2370+90A>G
ENST00000316623.9:c.7204+90A>G ENSP00000325527.5:n.7204+90A>G
ENST00000559133.5:c.2573+90A>G
NM_000138.4:c.7204+90A>G , LRG_778t1:c.7204+90A>G NP_000129.3:n.7204+90A>G
NM_000138.5:c.7204+90A>G MANE Select NP_000129.3:n.7204+90A>G
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