Canonical Allele Identifier: CA2804072267
Gene: FBN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48474400_48474410del , CM000677.2:g.48474400_48474410del GRCh38
NC_000015.9:g.48766597_48766607del , CM000677.1:g.48766597_48766607del GRCh37
NC_000015.8:g.46553889_46553899del NCBI36
NG_008805.2:g.176380_176390del , LRG_778:g.176380_176390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4088-32_4088-22del ENSP00000453958.2:n.4088-32_4088-22del
ENST00000674301.2:c.4088-32_4088-22del ENSP00000501333.2:n.4088-32_4088-22del
ENST00000684448.1:n.2762-32_2762-22del
ENST00000316623.10:c.4088-32_4088-22del MANE Select ENSP00000325527.5:n.4088-32_4088-22del
ENST00000316623.9:c.4088-32_4088-22del ENSP00000325527.5:n.4088-32_4088-22del
ENST00000537463.6:c.760-32_760-22del ENSP00000440294.2:n.760-32_760-22del
NM_000138.4:c.4088-32_4088-22del , LRG_778t1:c.4088-32_4088-22del NP_000129.3:n.4088-32_4088-22del
NM_000138.5:c.4088-32_4088-22del MANE Select NP_000129.3:n.4088-32_4088-22del
Search 100 bp 5'
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